Q9Y6J6 · KCNE2_HUMAN
- ProteinPotassium voltage-gated channel subfamily E member 2
- GeneKCNE2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids123 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
RCV000816121 RCV002487797 rs867658122 | 1 | M>T | Long QT syndrome 6 (ClinVar) Atrial fibrillation, familial, 4 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370480T>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370480T>C Locations: - p.Met1Thr (ClinVar:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
RCV001765067 rs2123423461 | 5 | S>F | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370492C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370492C>T Locations: - p.Ser5Phe (Ensembl:ENST00000290310) - c.14C>T (Ensembl:ENST00000290310) Source type: large scale study | |||||||
RCV001582409 RCV001866209 RCV002495950 rs2123423458 | 5 | S>P | Long QT syndrome 6 (ClinVar) Atrial fibrillation, familial, 4 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000021.9:g.34370491T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370491T>C Locations: - p.Ser5Pro (Ensembl:ENST00000290310) - c.13T>C (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
RCV001137161 RCV001139399 RCV002411643 RCV002497548 rs776661633 | 6 | N>S | Long QT syndrome 6 (ClinVar) Atrial fibrillation, familial, 4 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370495A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370495A>G Locations: - p.Asn6Ser (Ensembl:ENST00000290310) - c.17A>G (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
VAR_008375 CA199953 RCV000058368 RCV000170566 RCV000171812 RCV000248455 RCV000845300 RCV001086272 rs2234916 | 8 | T>A | Long QT syndrome, drug-associated (ClinVar) Long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0014 (ClinVar) Accession: NC_000021.9:g.34370500A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370500A>G Locations: - p.Thr8Ala (UniProt:Q9Y6J6) Disease association: - Long QT syndrome (LQTS) - Long QT syndrome 6 (LQT6) - Long QT syndrome, drug-associated Source type: mixed Cross-references: | |||||||
VAR_037794 rs35759083 | 8 | T>I | Variant of uncertain significance (Ensembl) | UniProt ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Accession: NC_000021.9:g.34370501C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370501C>T Locations: - p.Thr8Ile (UniProt:Q9Y6J6) Source type: mixed Cross-references: | |||||||
CA410196117 RCV000621147 rs16991652 | 9 | Q>* | Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (atfb4) (Ensembl) | Benign (Ensembl) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00479 (ClinVar) Accession: NC_000021.9:g.34370503C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370503C>T Locations: - p.Gln9Ter (Ensembl:ENST00000290310) - c.25C>T (Ensembl:ENST00000290310) Source type: large scale study | |||||||
VAR_008376 CA117922 RCV000006424 RCV000058370 RCV000170567 RCV000245955 RCV000990346 RCV001139400 rs16991652 | 9 | Q>E | risk factor for drug-induced arrhythmia; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel (UniProt) Long QT syndrome 6, acquired, susceptibility to (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) Atrial fibrillation, familial, 4 (atfb4) (Ensembl) | Benign (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00479 (ClinVar) Accession: NC_000021.9:g.34370503C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370503C>G Locations: - p.Gln9Glu (UniProt:Q9Y6J6) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) - Long QT syndrome 6, acquired, susceptibility to Source type: mixed Cross-references: | |||||||
rs758038035 | 9 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000021.9:g.34370504A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370504A>G Locations: - p.Gln9Arg (Ensembl:ENST00000290310) - c.26A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA199792 RCV000058373 RCV000171565 RCV000218738 RCV000576170 RCV000999581 RCV001703969 RCV002433562 rs199473648 | 10 | T>M | Congenital long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Long QT syndrome (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.00018 (ClinVar) Accession: NC_000021.9:g.34370507C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370507C>T Locations: - p.Thr10Met (Ensembl:ENST00000290310) - c.29C>T (Ensembl:ENST00000290310) Disease association: - Congenital long QT syndrome (RWS) - Hypertrophic cardiomyopathy - Long QT syndrome (LQTS) - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
COSV51710295 | 12 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000021.9:g.34370513A>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370513A>C Locations: - c.35A>C (NCI-TCGA:ENST00000290310) - p.E12A (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51710840 rs754523450 | 12 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000021.9:g.34370514A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370514A>C Locations: - p.E12D (NCI-TCGA:ENST00000290310) - p.Glu12Asp (Ensembl:ENST00000290310) - c.36A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1979530504 | 13 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000021.9:g.34370515G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370515G>T Locations: - p.Asp13Tyr (Ensembl:ENST00000290310) - c.37G>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
VAR_074921 CA211456 RCV000058375 RCV000148519 RCV000990347 RCV002321557 rs142153692 | 14 | V>I | LQT6; uncertain significance (UniProt) Long QT syndrome 6 (ClinVar) Long QT syndrome (ClinVar) | Likely benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000021.9:g.34370518G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370518G>A Locations: - p.Val14Ile (UniProt:Q9Y6J6) Disease association: - Long QT syndrome (LQTS) - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed | |||||||
rs142153692 | 14 | V>L | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000021.9:g.34370518G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370518G>C Locations: - p.Val14Leu (Ensembl:ENST00000290310) - c.40G>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1323358344 | 15 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000021.9:g.34370521T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370521T>C Locations: - p.Phe15Leu (Ensembl:ENST00000290310) - c.43T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs374431902 | 15 | F>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370522T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370522T>C Locations: - p.Phe15Ser (Ensembl:ENST00000290310) - c.44T>C (Ensembl:ENST00000290310) Source type: large scale study | |||||||
RCV001313654 RCV001751600 RCV002341632 rs779306606 | 16 | R>* | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370524C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370524C>T Locations: - p.Arg16Ter (Ensembl:ENST00000290310) - c.46C>T (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
CA301982 COSV51709534 RCV000170954 rs368865412 | 16 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370525G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370525G>A Locations: - p.R16Q (NCI-TCGA:ENST00000290310) - p.Arg16Gln (Ensembl:ENST00000290310) - c.47G>A (Ensembl:ENST00000290310) Source type: large scale study | |||||||
VAR_074922 CA329756 RCV000058376 rs199473363 | 20 | I>N | LQT6; uncertain significance (UniProt) Congenital long QT syndrome (ClinVar) | Variant of uncertain significance (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000021.9:g.34370537T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370537T>A Locations: - p.Ile20Asn (UniProt:Q9Y6J6) Disease association: - Congenital long QT syndrome (RWS) - Long QT syndrome 6 (LQT6) Source type: mixed Cross-references: | |||||||
rs1979532436 | 22 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000021.9:g.34370543A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370543A>T Locations: - p.Tyr22Phe (Ensembl:ENST00000290310) - c.65A>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV99285813 | 22 | Y>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000021.9:g.34370543A>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370543A>C Locations: - c.65A>C (NCI-TCGA:ENST00000290310) - p.Y22S (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV000678938 RCV002360705 RCV002485568 RCV003432724 rs747045005 | 23 | M>L | Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.79) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370545A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370545A>T Locations: - p.Met23Leu (Ensembl:ENST00000290310) - c.67A>T (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs1280448748 | 23 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370546T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370546T>C Locations: - p.Met23Thr (Ensembl:ENST00000290310) - c.68T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51710974 | 24 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.282) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000021.9:g.34370549A>G Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370549A>G Locations: - c.71A>G (NCI-TCGA:ENST00000290310) - p.D24G (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV99285752 | 25 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.32) Somatic: Yes Accession: NC_000021.9:g.34370552A>G Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370552A>G Locations: - c.74A>G (NCI-TCGA:ENST00000290310) - p.N25S (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1384910348 | 25 | N>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370551A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370551A>T Locations: - p.Asn25Tyr (Ensembl:ENST00000290310) - c.73A>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
VAR_037795 CA117924 RCV000006427 RCV000058377 RCV000157256 RCV000490451 RCV000756281 RCV001080271 RCV004018576 rs74315449 | 27 | R>C | ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF (UniProt) Primary familial hypertrophic cardiomyopathy (ClinVar) Atrial fibrillation (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) Atrial fibrillation, familial, 4 (atfb4) (Ensembl) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000021.9:g.34370557C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370557C>T Locations: - p.Arg27Cys (UniProt:Q9Y6J6) Disease association: - Atrial fibrillation - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome (LQTS) - Long QT syndrome 6 (LQT6) - Primary familial hypertrophic cardiomyopathy (HCM) - Atrial fibrillation, familial, 4 (ATFB4) Source type: mixed | |||||||
VAR_074923 CA211459 CM097712 RCV000058378 RCV000148520 RCV000786140 RCV001088249 RCV002415515 RCV002467562 rs148968498 | 27 | R>H | LQT6; uncertain significance (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Congenital long QT syndrome (ClinVar) Long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Atrial fibrillation, familial, 4 (ClinVar) | Benign (ClinVar) | UniProt ClinGen NCI-TCGA ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000021.9:g.34370558G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370558G>A Locations: - p.Arg27His (UniProt:Q9Y6J6) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Congenital long QT syndrome (RWS) - Long QT syndrome (LQTS) - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed Cross-references: - NCI-TCGA: CM097712 | |||||||
RCV001526947 RCV001873718 rs74315449 | 27 | R>S | Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (atfb4) (Ensembl) | Likely pathogenic (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.592) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000021.9:g.34370557C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370557C>A Locations: - p.Arg27Ser (Ensembl:ENST00000290310) - c.79C>A (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
rs369159493 | 28 | Q>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370560C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370560C>T Locations: - p.Gln28Ter (Ensembl:ENST00000290310) - c.82C>T (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs1427987437 | 29 | N>K | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370565C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370565C>G Locations: - p.Asn29Lys (Ensembl:ENST00000290310) - c.87C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV002030302 rs772975913 | 30 | T>I | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000021.9:g.34370567C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370567C>T Locations: - p.Thr30Ile (Ensembl:ENST00000290310) - c.89C>T (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
rs772975913 | 30 | T>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000021.9:g.34370567C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370567C>A Locations: - p.Thr30Lys (Ensembl:ENST00000290310) - c.89C>A (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs1307670975 | 30 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000021.9:g.34370566A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370566A>C Locations: - p.Thr30Pro (Ensembl:ENST00000290310) - c.88A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs757208768 | 31 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370570C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370570C>T Locations: - p.Thr31Ile (Ensembl:ENST00000290310) - c.92C>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs757208768 | 31 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370570C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370570C>G Locations: - p.Thr31Arg (Ensembl:ENST00000290310) - c.92C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
TCGA novel | 32 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000021.9:g.34370573C>T Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370573C>T Locations: - c.95C>T (NCI-TCGA:ENST00000290310) - p.A32V (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA410196271 RCV000493451 rs1131691291 | 33 | E>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000021.9:g.34370575G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370575G>A Locations: - p.Glu33Lys (Ensembl:ENST00000290310) - c.97G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs2123423704 | 36 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.644) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000021.9:g.34370584G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370584G>A Locations: - p.Ala36Thr (Ensembl:ENST00000290310) - c.106G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs765952344 | 37 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370587C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370587C>T Locations: - p.Leu37Phe (Ensembl:ENST00000290310) - c.109C>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs554011844 | 38 | Q>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000021.9:g.34370590C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370590C>G Locations: - p.Gln38Glu (Ensembl:ENST00000290310) - c.112C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1446756364 | 38 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000021.9:g.34370592A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370592A>T Locations: - p.Gln38His (Ensembl:ENST00000290310) - c.114A>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs554011844 | 38 | Q>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000021.9:g.34370590C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370590C>A Locations: - p.Gln38Lys (Ensembl:ENST00000290310) - c.112C>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs767031659 | 39 | A>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000021.9:g.34370594C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370594C>G Locations: - p.Ala39Gly (Ensembl:ENST00000290310) - c.116C>G (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs1316451468 | 39 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000021.9:g.34370593G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370593G>A Locations: - p.Ala39Thr (Ensembl:ENST00000290310) - c.115G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs752190819 | 40 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000021.9:g.34370597A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370597A>G Locations: - p.Lys40Arg (Ensembl:ENST00000290310) - c.119A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV000700143 RCV003238808 rs1273269997 | 41 | V>A | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000021.9:g.34370600T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370600T>C Locations: - p.Val41Ala (Ensembl:ENST00000290310) - c.122T>C (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
rs1273269997 | 41 | V>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370600T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370600T>G Locations: - p.Val41Gly (Ensembl:ENST00000290310) - c.122T>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1439240875 | 42 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (1) Somatic: No Accession: NC_000021.9:g.34370604T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370604T>A Locations: - p.Asp42Glu (Ensembl:ENST00000290310) - c.126T>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51710172 | 42 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000021.9:g.34370602G>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370602G>C Locations: - c.124G>C (NCI-TCGA:ENST00000290310) - p.D42H (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51709563 | 43 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000021.9:g.34370606C>T Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370606C>T Locations: - c.128C>T (NCI-TCGA:ENST00000290310) - p.A43V (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1979537044 | 44 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370609A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370609A>G Locations: - p.Glu44Gly (Ensembl:ENST00000290310) - c.131A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs953273203 | 44 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370608G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370608G>A Locations: - p.Glu44Lys (Ensembl:ENST00000290310) - c.130G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1429248689 | 45 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000021.9:g.34370611A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370611A>G Locations: - p.Asn45Asp (Ensembl:ENST00000290310) - c.133A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs779623946 | 47 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370619C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370619C>A Locations: - p.Tyr47Ter (Ensembl:ENST00000290310) - c.141C>A (Ensembl:ENST00000290310) Source type: large scale study | |||||||
COSV51710751 | 47 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000021.9:g.34370618A>T Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370618A>T Locations: - c.140A>T (NCI-TCGA:ENST00000290310) - p.Y47F (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1979537731 | 47 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000021.9:g.34370617T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370617T>C Locations: - p.Tyr47His (Ensembl:ENST00000290310) - c.139T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs757779830 | 47 | Y>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000021.9:g.34370618A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370618A>C Locations: - p.Tyr47Ser (Ensembl:ENST00000290310) - c.140A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001767133 rs2123423791 | 48 | Y>missing | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000021.9:g.34370619del Consequence type: frameshift Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370619del Locations: - p.Tyr48fs (ClinVar:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs780373385 | 48 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370622T>G Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370622T>G Locations: - p.Tyr48Ter (Ensembl:ENST00000290310) - c.144T>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs758863768 | 48 | Y>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.623) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000021.9:g.34370621A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370621A>C Locations: - p.Tyr48Ser (Ensembl:ENST00000290310) - c.143A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001976563 RCV002484890 RCV003375511 rs751276927 | 49 | V>missing | Long QT syndrome 6 (ClinVar) Atrial fibrillation, familial, 4 (ClinVar) | Likely benign (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370622dup Consequence type: frameshift Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370622dup Locations: - p.Val49fs (ClinVar:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
COSV99285693 | 49 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000021.9:g.34370623G>A Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370623G>A Locations: - c.145G>A (NCI-TCGA:ENST00000290310) - p.V49I (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51710220 | 50 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000021.9:g.34370626A>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370626A>C Locations: - c.148A>C (NCI-TCGA:ENST00000290310) - p.I50L (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs747232176 | 50 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370628C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370628C>G Locations: - p.Ile50Met (Ensembl:ENST00000290310) - c.150C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV99285640 | 51 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000021.9:g.34370629C>A Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370629C>A Locations: - c.151C>A (NCI-TCGA:ENST00000290310) - p.L51M (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1447716899 | 51 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000021.9:g.34370629C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370629C>G Locations: - p.Leu51Val (Ensembl:ENST00000290310) - c.151C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs982620931 | 52 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370632T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370632T>C Locations: - p.Tyr52His (Ensembl:ENST00000290310) - c.154T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1411888390 | 53 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370635C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370635C>T Locations: - p.Leu53Phe (Ensembl:ENST00000290310) - c.157C>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
VAR_008377 CA253741 RCV000006425 RCV000058360 RCV000212497 RCV000407848 RCV001841228 RCV002399310 rs74315447 | 54 | M>T | LQT6; forms I(KR) channels that deactivate twice as fast as wild type (UniProt) Cardiac arrhythmia (ClinVar) Congenital long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) KCNE2-related disorder (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00024 (ClinVar) Accession: NC_000021.9:g.34370639T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370639T>C Locations: - p.Met54Thr (UniProt:Q9Y6J6) Disease association: - Cardiac arrhythmia - Congenital long QT syndrome (RWS) - KCNE2-related disorder - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed | |||||||
RCV001208257 rs371724328 | 54 | M>V | Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.32) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370638A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370638A>G Locations: - p.Met54Val (Ensembl:ENST00000290310) - c.160A>G (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
rs1979540799 | 56 | M>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370645T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370645T>G Locations: - p.Met56Arg (Ensembl:ENST00000290310) - c.167T>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA218802 RCV000058361 rs199473649 | 56 | M>V | ClinGen ClinVar TOPMed dbSNP | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370644A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370644A>G Locations: - p.Met56Val (Ensembl:ENST00000290310) - c.166A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001050335 rs146053586 | 57 | I>M | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.313) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370649T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370649T>G Locations: - p.Ile57Met (Ensembl:ENST00000290310) - c.171T>G (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
VAR_008378 CA218805 RCV000006426 RCV000058362 RCV000241603 RCV001139401 RCV001841229 RCV004532298 rs74315448 | 57 | I>T | LQT6; may affect KCNQ1/KCNE2 channel (UniProt) Cardiac arrhythmia (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) Atrial fibrillation, familial, 4 (atfb4) (Ensembl) KCNE2-related disorder (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0008 (ClinVar) Accession: NC_000021.9:g.34370648T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370648T>C Locations: - p.Ile57Thr (UniProt:Q9Y6J6) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Cardiac arrhythmia - KCNE2-related disorder - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed Cross-references: | |||||||
rs2123423882 | 58 | G>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370650G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370650G>T Locations: - p.Gly58Ter (Ensembl:ENST00000290310) - c.172G>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV99285801 | 58 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000021.9:g.34370651G>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370651G>C Locations: - c.173G>C (NCI-TCGA:ENST00000290310) - p.G58A (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs770739581 | 59 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000021.9:g.34370653A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370653A>C Locations: - p.Met59Leu (Ensembl:ENST00000290310) - c.175A>C (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs770739581 | 59 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370653A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370653A>G Locations: - p.Met59Val (Ensembl:ENST00000290310) - c.175A>G (Ensembl:ENST00000290310) Source type: large scale study | |||||||
RCV001142017 RCV001142018 rs16991654 | 60 | F>I | Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) | Pathogenic (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370656T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370656T>A Locations: - p.Phe60Ile (Ensembl:ENST00000290310) - c.178T>A (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
VAR_029334 CA117926 RCV000006428 RCV000058363 rs16991654 | 60 | F>L | LQT6; uncertain significance (UniProt) Long QT syndrome 3/6, digenic (ClinVar) Congenital long QT syndrome (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Pathogenic (Ensembl, ClinVar) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000021.9:g.34370656T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370656T>C Locations: - p.Phe60Leu (UniProt:Q9Y6J6) Disease association: - Congenital long QT syndrome (RWS) - Long QT syndrome 3/6, digenic (LQT3/6, DIGENIC) - Long QT syndrome 6 (LQT6) Source type: mixed | |||||||
rs1979541976 | 61 | S>P | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.669) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370659T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370659T>C Locations: - p.Ser61Pro (Ensembl:ENST00000290310) - c.181T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
TCGA novel | 62 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370664C>G Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370664C>G Locations: - c.186C>G (NCI-TCGA:ENST00000290310) - p.F62L (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1226991524 | 64 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.717) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370669T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370669T>A Locations: - p.Ile64Asn (Ensembl:ENST00000290310) - c.191T>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA410196609 RCV000555620 RCV002413588 rs1555837082 | 64 | I>V | Long QT syndrome 6 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000021.9:g.34370668A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370668A>G Locations: - p.Ile64Val (Ensembl:ENST00000290310) - c.190A>G (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
rs1217144700 | 65 | V>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370672T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370672T>A Locations: - p.Val65Glu (Ensembl:ENST00000290310) - c.194T>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
VAR_074924 CA329750 RCV000058365 RCV000228047 RCV002498338 rs199473364 | 65 | V>L | LQT6; uncertain significance (UniProt) Congenital long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000021.9:g.34370671G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370671G>C Locations: - p.Val65Leu (UniProt:Q9Y6J6) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Congenital long QT syndrome (RWS) - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed | |||||||
VAR_015063 CA329748 RCV000058364 RCV000464363 rs199473364 | 65 | V>M | LQT6 (UniProt) Congenital long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000021.9:g.34370671G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370671G>A Locations: - p.Val65Met (UniProt:Q9Y6J6) Disease association: - Congenital long QT syndrome (RWS) - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed | |||||||
rs745605145 | 66 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000021.9:g.34370674G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370674G>A Locations: - p.Ala66Thr (Ensembl:ENST00000290310) - c.196G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
VAR_022052 CA218807 RCV000058366 RCV001854215 rs16991656 | 66 | A>V | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000021.9:g.34370675C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370675C>T Locations: - p.Ala66Val (UniProt:Q9Y6J6) Disease association: - Long QT syndrome 6 (LQT6) Source type: mixed Cross-references: | |||||||
rs1979543909 | 68 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370681T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370681T>C Locations: - p.Leu68Pro (Ensembl:ENST00000290310) - c.203T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1979544186 | 69 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370684T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370684T>C Locations: - p.Val69Ala (Ensembl:ENST00000290310) - c.206T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA301992 RCV000170961 RCV004020036 rs542835031 | 69 | V>M | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000021.9:g.34370683G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370683G>A Locations: - p.Val69Met (Ensembl:ENST00000290310) - c.205G>A (Ensembl:ENST00000290310) Source type: large scale study | |||||||
CA236156 RCV000171348 RCV001049236 rs751931568 | 70 | S>N | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370687G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370687G>A Locations: - p.Ser70Asn (Ensembl:ENST00000290310) - c.209G>A (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs1979544646 | 71 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370689A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370689A>G Locations: - p.Thr71Ala (Ensembl:ENST00000290310) - c.211A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51710610 | 71 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.48) Somatic: Yes Accession: NC_000021.9:g.34370690C>G Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370690C>G Locations: - c.212C>G (NCI-TCGA:ENST00000290310) - p.T71S (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1163230241 | 74 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000021.9:g.34370698T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370698T>C Locations: - p.Ser74Pro (Ensembl:ENST00000290310) - c.220T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001302151 rs1979545359 | 74 | S>Y | Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370699C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370699C>A Locations: - p.Ser74Tyr (Ensembl:ENST00000290310) - c.221C>A (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs1375227134 | 75 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.655) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370701A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370701A>G Locations: - p.Lys75Glu (Ensembl:ENST00000290310) - c.223A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV99285677 rs1603063207 | 75 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000021.9:g.34370703G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370703G>C Locations: - p.K75N (NCI-TCGA:ENST00000290310) - p.Lys75Asn (Ensembl:ENST00000290310) - c.225G>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs748194563 | 76 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000021.9:g.34370705G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370705G>A Locations: - p.Arg76Lys (Ensembl:ENST00000290310) - c.227G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
VAR_074925 CA211464 RCV000058369 RCV000148523 RCV002444518 rs199473365 | 77 | R>Q | LQT6; uncertain significance (UniProt) Congenital long QT syndrome (ClinVar) Long QT syndrome (ClinVar) | Likely benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar ESP ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370708G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370708G>A Locations: - p.Arg77Gln (UniProt:Q9Y6J6) Disease association: - Congenital long QT syndrome (RWS) - Long QT syndrome (LQTS) - Long QT syndrome 6 (LQT6) Source type: mixed | |||||||
VAR_035386 CA211462 CM064063 RCV000058367 RCV000148522 RCV000170957 RCV000781484 RCV001246221 RCV002444517 RCV002477193 rs141423405 | 77 | R>W | LQT6 (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Congenital long QT syndrome (ClinVar) Long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen NCI-TCGA ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00006363 (gnomAD) - MAF: 0.00007 (ClinVar) Accession: NC_000021.9:g.34370707C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370707C>T Locations: - p.Arg77Trp (UniProt:Q9Y6J6) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Congenital long QT syndrome (RWS) - Long QT syndrome (LQTS) - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed Cross-references: - NCI-TCGA: CM064063 | |||||||
rs770895197 | 79 | H>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370714A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370714A>C Locations: - p.His79Pro (Ensembl:ENST00000290310) - c.236A>C (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs770895197 | 79 | H>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.132) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000021.9:g.34370714A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370714A>G Locations: - p.His79Arg (Ensembl:ENST00000290310) - c.236A>G (Ensembl:ENST00000290310) Source type: large scale study | |||||||
RCV001963972 rs893883306 | 80 | S>P | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370716T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370716T>C Locations: - p.Ser80Pro (Ensembl:ENST00000290310) - c.238T>C (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
RCV001228752 RCV002447147 RCV002491725 rs1434304789 | 81 | N>S | Long QT syndrome 6 (ClinVar) Atrial fibrillation, familial, 4 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370720A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370720A>G Locations: - p.Asn81Ser (Ensembl:ENST00000290310) - c.242A>G (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs1979548316 | 82 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370723A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370723A>C Locations: - p.Asp82Ala (Ensembl:ENST00000290310) - c.245A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV002246215 rs1979548748 | 83 | P>A | Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370725C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370725C>G Locations: - p.Pro83Ala (Ensembl:ENST00000290310) - c.247C>G (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs1979548880 | 83 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370726C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370726C>G Locations: - p.Pro83Arg (Ensembl:ENST00000290310) - c.248C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001995265 rs1011448773 | 84 | Y>H | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370728T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370728T>C Locations: - p.Tyr84His (Ensembl:ENST00000290310) - c.250T>C (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs1273865901 | 85 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370731C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370731C>A Locations: - p.His85Asn (Ensembl:ENST00000290310) - c.253C>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1273865901 | 85 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370731C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370731C>T Locations: - p.His85Tyr (Ensembl:ENST00000290310) - c.253C>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV99285638 | 86 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000021.9:g.34370734C>T Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370734C>T Locations: - c.256C>T (NCI-TCGA:ENST00000290310) - p.Q86* (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1979549749 | 87 | Y>C | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370738A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370738A>G Locations: - p.Tyr87Cys (Ensembl:ENST00000290310) - c.260A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs771699510 | 88 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000021.9:g.34370740A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370740A>C Locations: - p.Ile88Leu (Ensembl:ENST00000290310) - c.262A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
TCGA novel rs771699510 | 88 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370740A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370740A>G Locations: - p.I88V (NCI-TCGA:ENST00000290310) - p.Ile88Val (Ensembl:ENST00000290310) - c.262A>G (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs1979550254 | 89 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.443) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000021.9:g.34370744T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370744T>C Locations: - p.Val89Ala (Ensembl:ENST00000290310) - c.266T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA145055 RCV000058371 rs199473366 | 90 | E>G | Atrial fibrillation (ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000021.9:g.34370747A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370747A>G Locations: - p.Glu90Gly (Ensembl:ENST00000290310) - c.269A>G (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation Source type: large scale study Cross-references: | |||||||
COSV51710158 | 90 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000021.9:g.34370746G>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370746G>C Locations: - c.268G>C (NCI-TCGA:ENST00000290310) - p.E90Q (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1008792812 | 91 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000021.9:g.34370750A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370750A>G Locations: - p.Asp91Gly (Ensembl:ENST00000290310) - c.272A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51710455 rs1979550781 | 91 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000021.9:g.34370749G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370749G>A Locations: - p.D91N (NCI-TCGA:ENST00000290310) - p.Asp91Asn (Ensembl:ENST00000290310) - c.271G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1008792812 | 91 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370750A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370750A>T Locations: - p.Asp91Val (Ensembl:ENST00000290310) - c.272A>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
TCGA novel | 92 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370754G>A Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370754G>A Locations: - c.276G>A (NCI-TCGA:ENST00000290310) - p.W92* (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1018893224 | 92 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000021.9:g.34370752T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370752T>C Locations: - p.Trp92Arg (Ensembl:ENST00000290310) - c.274T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs760181970 | 93 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000021.9:g.34370756A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370756A>G Locations: - p.Gln93Arg (Ensembl:ENST00000290310) - c.278A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
VAR_074926 CA329753 RCV000058372 RCV002433561 RCV002513765 rs74424227 | 94 | E>G | LQT6; uncertain significance (UniProt) Congenital long QT syndrome (ClinVar) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Likely benign (ClinVar) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00052 (ClinVar) Accession: NC_000021.9:g.34370759A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370759A>G Locations: - p.Glu94Gly (UniProt:Q9Y6J6) Disease association: - Congenital long QT syndrome (RWS) - Long QT syndrome 6 (LQT6) - Long QT syndrome 6 (LQT6) Source type: mixed | |||||||
COSV51709991 | 94 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.49) Somatic: Yes Accession: NC_000021.9:g.34370758G>A Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370758G>A Locations: - c.280G>A (NCI-TCGA:ENST00000290310) - p.E94K (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs74424227 | 94 | E>V | Long qt syndrome 6 (lqt6) (Ensembl) | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.281) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000021.9:g.34370759A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370759A>T Locations: - p.Glu94Val (Ensembl:ENST00000290310) - c.281A>T (Ensembl:ENST00000290310) Source type: large scale study | |||||||
CA410196966 RCV000497782 rs1555837113 | 95 | K>N | Primary dilated cardiomyopathy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000021.9:g.34370763G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370763G>T Locations: - p.Lys95Asn (Ensembl:ENST00000290310) - c.285G>T (Ensembl:ENST00000290310) Disease association: - Primary dilated cardiomyopathy (DCM) Source type: large scale study Cross-references: | |||||||
rs2123424144 | 96 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370766_34370767del Codon: TACAAG/TAAG Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370766_34370767del Locations: - p.Tyr96Ter (Ensembl:ENST00000290310) - c.288_289del (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1979551867 | 96 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370766C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370766C>G Locations: - p.Tyr96Ter (Ensembl:ENST00000290310) - c.288C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1262447968 | 96 | Y>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.669) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000021.9:g.34370764T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370764T>G Locations: - p.Tyr96Asp (Ensembl:ENST00000290310) - c.286T>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1262447968 | 96 | Y>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.669) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000021.9:g.34370764T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370764T>A Locations: - p.Tyr96Asn (Ensembl:ENST00000290310) - c.286T>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1323337433 COSV99285791 | 97 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious (0.04) - PolyPhen: benign (0.033) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000021.9:g.34370769G>T, NC_000021.9:g.34370769G>C Codon: AAG/AAT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370769G>T, NC_000021.9:g.34370769G>C Locations: - p.Lys97Asn (Ensembl:ENST00000290310) - c.291G>T (Ensembl:ENST00000290310) - p.K97N (NCI-TCGA:ENST00000290310) - c.291G>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1448800754 | 97 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000021.9:g.34370768A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370768A>G Locations: - p.Lys97Arg (Ensembl:ENST00000290310) - c.290A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1448800754 | 97 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000021.9:g.34370768A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370768A>C Locations: - p.Lys97Thr (Ensembl:ENST00000290310) - c.290A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001319648 rs1333677285 | 98 | S>N | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.54) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370771G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370771G>A Locations: - p.Ser98Asn (Ensembl:ENST00000290310) - c.293G>A (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
RCV000853599 rs1196937368 | 98 | S>R | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: tolerated (0.21) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000021.9:g.34370772C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370772C>G Locations: - p.Ser98Arg (Ensembl:ENST00000290310) - c.294C>G (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs1392259151 | 98 | S>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000021.9:g.34370770A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370770A>C Locations: - p.Ser98Arg (Ensembl:ENST00000290310) - c.292A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1333677285 | 98 | S>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000021.9:g.34370771G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370771G>C Locations: - p.Ser98Thr (Ensembl:ENST00000290310) - c.293G>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs961832580 | 100 | I>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000021.9:g.34370776A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370776A>C Locations: - p.Ile100Leu (Ensembl:ENST00000290310) - c.298A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs763545106 | 101 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000021.9:g.34370781G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370781G>T Locations: - p.Leu101Phe (Ensembl:ENST00000290310) - c.303G>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
COSV51709614 | 102 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000021.9:g.34370783A>T Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370783A>T Locations: - c.305A>T (NCI-TCGA:ENST00000290310) - p.N102I (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1465209715 | 102 | N>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000021.9:g.34370783A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370783A>C Locations: - p.Asn102Thr (Ensembl:ENST00000290310) - c.305A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs767047359 | 102 | N>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000021.9:g.34370782A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370782A>T Locations: - p.Asn102Tyr (Ensembl:ENST00000290310) - c.304A>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs751891377 | 103 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000021.9:g.34370786T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370786T>C Locations: - p.Leu103Pro (Ensembl:ENST00000290310) - c.308T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1279376755 | 104 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000021.9:g.34370788G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370788G>T Locations: - p.Glu104Ter (Ensembl:ENST00000290310) - c.310G>T (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs113659353 | 104 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000021.9:g.34370789A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370789A>G Locations: - p.Glu104Gly (Ensembl:ENST00000290310) - c.311A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1714350973 | 105 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.195) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000021.9:g.34370791G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370791G>A Locations: - p.Glu105Lys (Ensembl:ENST00000290310) - c.313G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
TCGA novel | 105 | E>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.602) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000021.9:g.34370792A>T Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370792A>T Locations: - c.314A>T (NCI-TCGA:ENST00000290310) - p.E105V (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA10013440 RCV000439315 RCV000620110 RCV001088045 rs183427173 | 106 | S>L | Long QT syndrome 6 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000021.9:g.34370795C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370795C>T Locations: - p.Ser106Leu (Ensembl:ENST00000290310) - c.317C>T (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
TCGA novel | 106 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000021.9:g.34370794T>A Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370794T>A Locations: - c.316T>A (NCI-TCGA:ENST00000290310) - p.S106T (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1345725522 | 108 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000021.9:g.34370801C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370801C>G Locations: - p.Ala108Gly (Ensembl:ENST00000290310) - c.323C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1235701363 | 111 | H>Q | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000021.9:g.34370811T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370811T>G Locations: - p.His111Gln (Ensembl:ENST00000290310) - c.333T>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs752888066 | 111 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000021.9:g.34370810A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370810A>G Locations: - p.His111Arg (Ensembl:ENST00000290310) - c.332A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs2123424249 | 112 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000021.9:g.34370812G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370812G>A Locations: - p.Glu112Lys (Ensembl:ENST00000290310) - c.334G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs756380802 | 113 | N>K | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000021.9:g.34370817C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370817C>A Locations: - p.Asn113Lys (Ensembl:ENST00000290310) - c.339C>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1197914778 | 114 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000021.9:g.34370818A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370818A>C Locations: - p.Ile114Leu (Ensembl:ENST00000290310) - c.340A>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1271286914 | 114 | I>T | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000021.9:g.34370819T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370819T>C Locations: - p.Ile114Thr (Ensembl:ENST00000290310) - c.341T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1197914778 | 114 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000021.9:g.34370818A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370818A>G Locations: - p.Ile114Val (Ensembl:ENST00000290310) - c.340A>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1349032678 | 115 | G>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000021.9:g.34370822G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370822G>A Locations: - p.Gly115Asp (Ensembl:ENST00000290310) - c.344G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001299598 rs1349032678 | 115 | G>V | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000021.9:g.34370822G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370822G>T Locations: - p.Gly115Val (Ensembl:ENST00000290310) - c.344G>T (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
RCV001876540 rs2123424300 | 116 | A>missing | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000021.9:g.34370823_34370824dup Consequence type: frameshift Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370823_34370824dup Locations: - p.Ala116fs (ClinVar:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
RCV001890849 RCV002458738 RCV002503503 rs150790888 | 116 | A>T | Long QT syndrome 6 (ClinVar) Atrial fibrillation, familial, 4 (ClinVar) | Likely benign (ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000021.9:g.34370824G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370824G>A Locations: - p.Ala116Thr (Ensembl:ENST00000290310) - c.346G>A (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
CA145058 CM003450 COSV51710393 RCV000058374 RCV000222131 RCV001823107 rs199473367 | 116 | A>V | Acquired long QT syndrome (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) | Likely pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated - low confidence (0.07) - PolyPhen: benign (0.215) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00001989 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370825C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370825C>T Locations: - p.A116V (NCI-TCGA:ENST00000290310) - p.Ala116Val (Ensembl:ENST00000290310) - c.347C>T (Ensembl:ENST00000290310) Disease association: - Acquired long QT syndrome - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: - NCI-TCGA: CM003450 | |||||||
rs376886316 | 117 | A>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000021.9:g.34370828C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370828C>G Locations: - p.Ala117Gly (Ensembl:ENST00000290310) - c.350C>G (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs1208119029 | 117 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000021.9:g.34370827G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370827G>A Locations: - p.Ala117Thr (Ensembl:ENST00000290310) - c.349G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs376886316 | 117 | A>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000021.9:g.34370828C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370828C>T Locations: - p.Ala117Val (Ensembl:ENST00000290310) - c.350C>T (Ensembl:ENST00000290310) Source type: large scale study | |||||||
rs1201861262 | 118 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000021.9:g.34370831G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370831G>C Locations: - p.Gly118Ala (Ensembl:ENST00000290310) - c.353G>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs745612699 | 118 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000021.9:g.34370830G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370830G>A Locations: - p.Gly118Arg (Ensembl:ENST00000290310) - c.352G>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA236733 RCV000171660 RCV001852075 RCV002453589 rs139202426 | 119 | F>L | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000021.9:g.34370835C>A, NC_000021.9:g.34370835C>G Codon: TTC/TTA Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370835C>A, NC_000021.9:g.34370835C>G Locations: - p.Phe119Leu (Ensembl:ENST00000290310) - c.357C>A (Ensembl:ENST00000290310) - c.357C>G (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
rs867563620 | 119 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000021.9:g.34370834T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370834T>C Locations: - p.Phe119Ser (Ensembl:ENST00000290310) - c.356T>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1418270054 | 119 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000021.9:g.34370833T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370833T>G Locations: - p.Phe119Val (Ensembl:ENST00000290310) - c.355T>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA301985 RCV000170958 rs786205807 | 121 | M>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.58) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370840T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370840T>A Locations: - p.Met121Lys (Ensembl:ENST00000290310) - c.362T>A (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001306232 rs1979560748 | 122 | S>F | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000021.9:g.34370843C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370843C>T Locations: - p.Ser122Phe (Ensembl:ENST00000290310) - c.365C>T (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
TCGA novel | 122 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000021.9:g.34370842T>C Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370842T>C Locations: - c.364T>C (NCI-TCGA:ENST00000290310) - p.S122P (NCI-TCGA:ENST00000290310) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs746625998 | 123 | P>A | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000021.9:g.34370845C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370845C>G Locations: - p.Pro123Ala (Ensembl:ENST00000290310) - c.367C>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001307626 rs746625998 | 123 | P>S | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370845C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370845C>T Locations: - p.Pro123Ser (Ensembl:ENST00000290310) - c.367C>T (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: | |||||||
rs1337880650 | 124 | *>D | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000021.9:g.34370848del Codon: TGA/GA Consequence type: stop lost Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370848del Locations: - p.Ter124AspfsTer11 (Ensembl:ENST00000290310) - c.370del (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
rs1426103687 | 124 | *>G | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000021.9:g.34370848T>G Codon: TGA/GGA Consequence type: stop lost Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370848T>G Locations: - p.Ter124GlyextTer1 (Ensembl:ENST00000290310) - c.370T>G (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
CA301991 RCV000170960 RCV000618615 RCV000695566 RCV000778640 RCV002505230 rs45610936 | 124 | *>I | Long QT syndrome 6 (ClinVar) Long qt syndrome 6 (lqt6) (Ensembl) Atrial fibrillation, familial, 4 (ClinVar) KCNE2-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop lost Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000021.9:g.34370847_34370848del Codon: CCCTGA/CCGA Consequence type: stop lost Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370847_34370848del Locations: - p.Ter124IlefsTer15 (Ensembl:ENST00000290310) - c.369_370del (Ensembl:ENST00000290310) Disease association: - Atrial fibrillation, familial, 4 (ATFB4) - KCNE2-related disorder - Long QT syndrome 6 (LQT6) Source type: large scale study | |||||||
CA301988 RCV000170959 rs786205808 | 124 | *>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: stop lost Somatic: No Accession: NC_000021.9:g.34370849G>C Codon: TGA/TCA Consequence type: stop lost Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370849G>C Locations: - p.Ter124SerextTer1 (Ensembl:ENST00000290310) - c.371G>C (Ensembl:ENST00000290310) Source type: large scale study Cross-references: | |||||||
RCV001228326 RCV002348769 rs1305783893 | 124 | *>W | Long QT syndrome 6 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: stop lost Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000021.9:g.34370850A>G Codon: TGA/TGG Consequence type: stop lost Cytogenetic band: 21q22.11 Genomic location: NC_000021.9:g.34370850A>G Locations: - p.Ter124TrpextTer1 (Ensembl:ENST00000290310) - c.372A>G (Ensembl:ENST00000290310) Disease association: - Long QT syndrome 6 (LQT6) Source type: large scale study Cross-references: |