C9JS54 · C9JS54_HUMAN
- ProteinSad1 and UNC84 domain containing 1
- GeneSUN1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids113 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
RCV001318108 rs199693265 | 2 | D>A | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000007.14:g.832529A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832529A>C Locations: - p.Asp2Ala (Ensembl:ENST00000421580) - c.5A>C (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs1562542721 | 3 | F>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832531T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832531T>C Locations: - p.Phe3Leu (Ensembl:ENST00000421580) - c.7T>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1562542721 | 3 | F>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832531T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832531T>G Locations: - p.Phe3Val (Ensembl:ENST00000421580) - c.7T>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1798904311 | 4 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832534T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832534T>G Locations: - p.Ser4Ala (Ensembl:ENST00000421580) - c.10T>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs370947011 | 5 | R>P | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.832538G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832538G>C Locations: - p.Arg5Pro (Ensembl:ENST00000421580) - c.14G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs370947011 | 5 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.832538G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832538G>A Locations: - p.Arg5Gln (Ensembl:ENST00000421580) - c.14G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV000689087 rs149483651 | 5 | R>W | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000007.14:g.832537C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832537C>T Locations: - p.Arg5Trp (Ensembl:ENST00000421580) - c.13C>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
COSV108166753 RCV000694307 rs777969470 | 6 | L>I | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000007.14:g.832540C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832540C>A Locations: - p.Leu6Ile (Ensembl:ENST00000421580) - c.16C>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs1328439199 | 7 | H>Y | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.832543C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832543C>T Locations: - p.His7Tyr (Ensembl:ENST00000421580) - c.19C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs373925818 | 8 | M>K | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832547T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832547T>A Locations: - p.Met8Lys (Ensembl:ENST00000421580) - c.23T>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
CA4111356 RCV000526025 RCV004023863 rs373925818 | 8 | M>T | Emery-Dreifuss muscular dystrophy (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000007.14:g.832547T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832547T>C Locations: - p.Met8Thr (Ensembl:ENST00000421580) - c.23T>C (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs1303759160 | 8 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.832546A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832546A>G Locations: - p.Met8Val (Ensembl:ENST00000421580) - c.22A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV100568750 rs1222993651 | 9 | Y>H | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.832549T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832549T>C Locations: - p.Tyr9His (Ensembl:ENST00000421580) - c.25T>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs918776925 | 10 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832552A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832552A>G Locations: - p.Ser10Gly (Ensembl:ENST00000421580) - c.28A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV61779108 RCV000792139 rs200505697 | 10 | S>N | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000007.14:g.832553G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832553G>A Locations: - p.Ser10Asn (Ensembl:ENST00000421580) - c.29G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs372463311 | 10 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832554T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832554T>G Locations: - p.Ser10Arg (Ensembl:ENST00000421580) - c.30T>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1798925249 | 11 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832555C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832555C>T Locations: - p.Pro11Ser (Ensembl:ENST00000421580) - c.31C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1232081746 | 12 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832558C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832558C>T Locations: - p.Pro12Ser (Ensembl:ENST00000421580) - c.34C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV100568772 rs1232081746 | 12 | P>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.832558C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832558C>A Locations: - p.Pro12Thr (Ensembl:ENST00000421580) - c.34C>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs1266348019 | 14 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832564T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832564T>C Locations: - p.Cys14Arg (Ensembl:ENST00000421580) - c.40T>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV61778177 rs377456170 | 16 | P>L | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.832571C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832571C>T Locations: - p.Pro16Leu (Ensembl:ENST00000421580) - c.47C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1425200228 | 17 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832573G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832573G>A Locations: - p.Glu17Lys (Ensembl:ENST00000421580) - c.49G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs202032136 | 18 | N>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832576A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832576A>C Locations: - p.Asn18His (Ensembl:ENST00000421580) - c.52A>C (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs1798941238 | 18 | N>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832577A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832577A>C Locations: - p.Asn18Thr (Ensembl:ENST00000421580) - c.53A>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV61778306 rs1169026395 | 19 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00000816 (gnomAD) Accession: NC_000007.14:g.832580C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832580C>T Locations: - p.T19M (NCI-TCGA:ENST00000421580) - p.Thr19Met (Ensembl:ENST00000421580) - c.56C>T (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs1354305341 | 20 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832583G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832583G>T Locations: - p.Gly20Val (Ensembl:ENST00000421580) - c.59G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1458736598 | 22 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832589C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832589C>T Locations: - p.Thr22Met (Ensembl:ENST00000421580) - c.65C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1373324916 | 23 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832592A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832592A>G Locations: - p.Tyr23Cys (Ensembl:ENST00000421580) - c.68A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs773011374 | 23 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832591T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832591T>C Locations: - p.Tyr23His (Ensembl:ENST00000421580) - c.67T>C (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs1278902056 | 24 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832595C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832595C>T Locations: - p.Ala24Val (Ensembl:ENST00000421580) - c.71C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1039713457 | 25 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.832598T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.832598T>C Locations: - p.Leu25Pro (Ensembl:ENST00000421580) - c.74T>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1334690931 | 27 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838799T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838799T>G Locations: - p.Ser27Ala (Ensembl:ENST00000421580) - c.79T>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1806108081 | 28 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838803G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838803G>C Locations: - p.Ser28Thr (Ensembl:ENST00000421580) - c.83G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs753219957 | 29 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.838807T>G Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838807T>G Locations: - p.Tyr29Ter (Ensembl:ENST00000421580) - c.87T>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs765522260 | 29 | Y>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838806A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838806A>G Locations: - p.Tyr29Cys (Ensembl:ENST00000421580) - c.86A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs2128270236 | 30 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838809C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838809C>T Locations: - p.Ser30Phe (Ensembl:ENST00000421580) - c.89C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs995109673 | 32 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.838815A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838815A>G Locations: - p.Asp32Gly (Ensembl:ENST00000421580) - c.95A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1240613681 | 32 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.838814G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838814G>A Locations: - p.Asp32Asn (Ensembl:ENST00000421580) - c.94G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1348133509 | 33 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838818C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838818C>T Locations: - p.Ala33Val (Ensembl:ENST00000421580) - c.98C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1806116993 | 35 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838823G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838823G>C Locations: - p.Asp35His (Ensembl:ENST00000421580) - c.103G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1806118395 | 37 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838829G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838829G>C Locations: - p.Glu37Gln (Ensembl:ENST00000421580) - c.109G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs763405287 | 38 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.838833C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838833C>A Locations: - p.Thr38Lys (Ensembl:ENST00000421580) - c.113C>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs763405287 | 38 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.838833C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838833C>T Locations: - p.Thr38Met (Ensembl:ENST00000421580) - c.113C>T (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs1806127302 | 40 | H>Q | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838840C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838840C>G Locations: - p.His40Gln (Ensembl:ENST00000421580) - c.120C>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1806125227 | 40 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838838C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838838C>T Locations: - p.His40Tyr (Ensembl:ENST00000421580) - c.118C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1584448469 | 43 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.838848A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838848A>C Locations: - p.Asp43Ala (Ensembl:ENST00000421580) - c.128A>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs940678630 | 43 | D>E | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.838849C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838849C>G Locations: - p.Asp43Glu (Ensembl:ENST00000421580) - c.129C>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1007970141 | 44 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.838850C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838850C>G Locations: - p.Pro44Ala (Ensembl:ENST00000421580) - c.130C>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1007970141 | 44 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838850C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838850C>A Locations: - p.Pro44Thr (Ensembl:ENST00000421580) - c.130C>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1235003550 | 45 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838853G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838853G>A Locations: - p.Val45Ile (Ensembl:ENST00000421580) - c.133G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1158268326 | 47 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.838860A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838860A>G Locations: - p.Asp47Gly (Ensembl:ENST00000421580) - c.140A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs781465045 | 47 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838859G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838859G>C Locations: - p.Asp47His (Ensembl:ENST00000421580) - c.139G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1562584939 | 49 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838866C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838866C>T Locations: - p.Pro49Leu (Ensembl:ENST00000421580) - c.146C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV100568665 rs775225289 | 50 | R>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.838869G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838869G>T Locations: - p.Arg50Leu (Ensembl:ENST00000421580) - c.149G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV100568665 COSV61777720 rs775225289 | 50 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001326 (gnomAD) Accession: NC_000007.14:g.838869G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838869G>A Locations: - p.R50Q (NCI-TCGA:ENST00000421580) - p.Arg50Gln (Ensembl:ENST00000421580) - c.149G>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
RCV001213270 rs1019819580 | 50 | R>W | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.838868C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838868C>T Locations: - p.Arg50Trp (Ensembl:ENST00000421580) - c.148C>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs1432880973 | 51 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838873G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838873G>A Locations: - p.Met51Ile (Ensembl:ENST00000421580) - c.153G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1174104817 | 52 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838874T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838874T>C Locations: - p.Ser52Pro (Ensembl:ENST00000421580) - c.154T>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs754833191 | 53 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838877C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838877C>T Locations: - p.Arg53Cys (Ensembl:ENST00000421580) - c.157C>T (Ensembl:ENST00000421580) Source type: large scale study | |||||||
COSV61777538 rs1404378845 | 53 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.838878G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838878G>A Locations: - p.R53H (NCI-TCGA:ENST00000421580) - p.Arg53His (Ensembl:ENST00000421580) - c.158G>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs778801320 | 54 | R>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838880C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838880C>T Locations: - p.Arg54Cys (Ensembl:ENST00000421580) - c.160C>T (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs778801320 | 54 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838880C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838880C>G Locations: - p.Arg54Gly (Ensembl:ENST00000421580) - c.160C>G (Ensembl:ENST00000421580) Source type: large scale study | |||||||
RCV000707439 rs772100423 | 54 | R>H | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000007.14:g.838881G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838881G>A Locations: - p.Arg54His (Ensembl:ENST00000421580) - c.161G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs778801320 | 54 | R>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838880C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838880C>A Locations: - p.Arg54Ser (Ensembl:ENST00000421580) - c.160C>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
RCV000802057 RCV004028089 rs777193403 | 55 | S>G | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000007.14:g.838883A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838883A>G Locations: - p.Ser55Gly (Ensembl:ENST00000421580) - c.163A>G (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs1806163895 | 55 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838884G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838884G>A Locations: - p.Ser55Asn (Ensembl:ENST00000421580) - c.164G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV104652885 rs746512215 | 57 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00002499 (gnomAD) Accession: NC_000007.14:g.838889C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838889C>T Locations: - p.R57C (NCI-TCGA:ENST00000421580) - p.Arg57Cys (Ensembl:ENST00000421580) - c.169C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs770554143 | 57 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.838890G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838890G>A Locations: - p.Arg57His (Ensembl:ENST00000421580) - c.170G>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs1369029283 | 59 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000007.14:g.838896C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838896C>T Locations: - p.Ala59Val (Ensembl:ENST00000421580) - c.176C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV001051584 RCV004031607 rs112200342 | 60 | T>M | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00012 (ClinVar) Accession: NC_000007.14:g.838899C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838899C>T Locations: - p.Thr60Met (Ensembl:ENST00000421580) - c.179C>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs763491274 | 61 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000007.14:g.838901A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838901A>G Locations: - p.Thr61Ala (Ensembl:ENST00000421580) - c.181A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs199540623 | 62 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.838904G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838904G>T Locations: - p.Ala62Ser (Ensembl:ENST00000421580) - c.184G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs199540623 | 62 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.838904G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838904G>A Locations: - p.Ala62Thr (Ensembl:ENST00000421580) - c.184G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1806183280 | 62 | A>V | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.838905C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838905C>T Locations: - p.Ala62Val (Ensembl:ENST00000421580) - c.185C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1436500544 | 64 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000007.14:g.838910A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838910A>G Locations: - p.Thr64Ala (Ensembl:ENST00000421580) - c.190A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1181274189 | 64 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000007.14:g.838911C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838911C>A Locations: - p.Thr64Asn (Ensembl:ENST00000421580) - c.191C>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1436500544 | 64 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.838910A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838910A>C Locations: - p.Thr64Pro (Ensembl:ENST00000421580) - c.190A>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs774353215 | 65 | L>M | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.838913C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838913C>A Locations: - p.Leu65Met (Ensembl:ENST00000421580) - c.193C>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs774353215 | 65 | L>V | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.838913C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838913C>G Locations: - p.Leu65Val (Ensembl:ENST00000421580) - c.193C>G (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs1481428537 | 66 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000007.14:g.838917G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838917G>A Locations: - p.Gly66Glu (Ensembl:ENST00000421580) - c.197G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1001533346 | 66 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.838916G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838916G>C Locations: - p.Gly66Arg (Ensembl:ENST00000421580) - c.196G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs371817690 | 67 | D>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.838920A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838920A>G Locations: - p.Asp67Gly (Ensembl:ENST00000421580) - c.200A>G (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs761950069 | 67 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.838919G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838919G>A Locations: - p.Asp67Asn (Ensembl:ENST00000421580) - c.199G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV002000277 rs371817690 | 67 | D>V | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838920A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838920A>T Locations: - p.Asp67Val (Ensembl:ENST00000421580) - c.200A>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
RCV001520200 rs188935423 | 68 | G>D | Emery-Dreifuss muscular dystrophy (ClinVar) | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: tolerated (0.42) Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000007.14:g.838923G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838923G>A Locations: - p.Gly68Asp (Ensembl:ENST00000421580) - c.203G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs1393984891 | 69 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.838927G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838927G>T Locations: - p.Glu69Asp (Ensembl:ENST00000421580) - c.207G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1169650610 | 69 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.838925G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838925G>A Locations: - p.Glu69Lys (Ensembl:ENST00000421580) - c.205G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1806209226 | 72 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.838935G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838935G>T Locations: - p.Gly72Val (Ensembl:ENST00000421580) - c.215G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs756364697 | 73 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.838938C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838938C>G Locations: - p.Ala73Gly (Ensembl:ENST00000421580) - c.218C>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1402764215 | 74 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.838942C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838942C>A Locations: - p.Asp74Glu (Ensembl:ENST00000421580) - c.222C>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
CA4111414 RCV000557468 rs374767640 | 74 | D>N | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000007.14:g.838940G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838940G>A Locations: - p.Asp74Asn (Ensembl:ENST00000421580) - c.220G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs758464179 | 75 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.838944G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838944G>C Locations: - p.Ser75Thr (Ensembl:ENST00000421580) - c.224G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV002064836 rs149038179 | 76 | G>A | Emery-Dreifuss muscular dystrophy (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.42) Somatic: No Population frequencies: - MAF: 0.001 (ClinVar) Accession: NC_000007.14:g.838947G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838947G>C Locations: - p.Gly76Ala (Ensembl:ENST00000421580) - c.227G>C (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
CA4111417 RCV000537279 RCV003915524 rs114826023 | 76 | G>C | SUN1-related disorder (ClinVar) Emery-Dreifuss muscular dystrophy (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.47) Somatic: No Population frequencies: - MAF: 0.003 (ClinVar) Accession: NC_000007.14:g.838946G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838946G>T Locations: - p.Gly76Cys (Ensembl:ENST00000421580) - c.226G>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) - SUN1-related disorder Source type: large scale study | |||||||
RCV001944427 rs114826023 | 76 | G>S | Emery-Dreifuss muscular dystrophy (ClinVar) | Benign (Ensembl) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.838946G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838946G>A Locations: - p.Gly76Ser (Ensembl:ENST00000421580) - c.226G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs149038179 | 76 | G>V | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.838947G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838947G>T Locations: - p.Gly76Val (Ensembl:ENST00000421580) - c.227G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV001360222 RCV004036756 rs780522800 | 78 | S>N | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00012 (ClinVar) Accession: NC_000007.14:g.838953G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838953G>A Locations: - p.Ser78Asn (Ensembl:ENST00000421580) - c.233G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
CA4111420 COSV100568902 RCV000549912 RCV003431081 rs199999269 | 79 | S>G | Emery-Dreifuss muscular dystrophy (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.8) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000007.14:g.838955A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838955A>G Locations: - p.Ser79Gly (Ensembl:ENST00000421580) - c.235A>G (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs1220596892 | 80 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.838959C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838959C>A Locations: - p.Ala80Asp (Ensembl:ENST00000421580) - c.239C>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs775882448 | 80 | A>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.838958G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838958G>C Locations: - p.Ala80Pro (Ensembl:ENST00000421580) - c.238G>C (Ensembl:ENST00000421580) Source type: large scale study | |||||||
COSV61777619 rs775882448 | 80 | A>S | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.75) Somatic: Yes Accession: NC_000007.14:g.838958G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838958G>T Locations: - p.Ala80Ser (Ensembl:ENST00000421580) - c.238G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV61778351 RCV001297378 rs775882448 | 80 | A>T | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.8) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000007.14:g.838958G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838958G>A Locations: - p.Ala80Thr (Ensembl:ENST00000421580) - c.238G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs1584452079 | 81 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.838962T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838962T>G Locations: - p.Val81Gly (Ensembl:ENST00000421580) - c.242T>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV001062171 rs536171212 | 81 | V>I | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000007.14:g.838961G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838961G>A Locations: - p.Val81Ile (Ensembl:ENST00000421580) - c.241G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs536171212 | 81 | V>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000007.14:g.838961G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838961G>C Locations: - p.Val81Leu (Ensembl:ENST00000421580) - c.241G>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs958523590 | 82 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.838965C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838965C>G Locations: - p.Ser82Cys (Ensembl:ENST00000421580) - c.245C>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1371294898 | 83 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.838968T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838968T>C Locations: - p.Leu83Pro (Ensembl:ENST00000421580) - c.248T>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1806257586 | 84 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000007.14:g.838971A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838971A>G Locations: - p.Lys84Arg (Ensembl:ENST00000421580) - c.251A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs377212222 | 85 | N>I | Variant of uncertain significance (Ensembl) | ESP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.838974A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838974A>T Locations: - p.Asn85Ile (Ensembl:ENST00000421580) - c.254A>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1407586100 | 86 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.838976C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838976C>G Locations: - p.Arg86Gly (Ensembl:ENST00000421580) - c.256C>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs375668872 | 86 | R>L | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.838977G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838977G>T Locations: - p.Arg86Leu (Ensembl:ENST00000421580) - c.257G>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV61777596 RCV000873720 RCV003938332 rs375668872 | 86 | R>P | SUN1-related disorder (ClinVar) Emery-Dreifuss muscular dystrophy (ClinVar) | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.0008 (ClinVar) Accession: NC_000007.14:g.838977G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838977G>C Locations: - p.Arg86Pro (Ensembl:ENST00000421580) - c.257G>C (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) - SUN1-related disorder Source type: large scale study | |||||||
RCV001942422 rs375668872 | 86 | R>Q | Emery-Dreifuss muscular dystrophy (ClinVar) | Benign (Ensembl) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000007.14:g.838977G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838977G>A Locations: - p.Arg86Gln (Ensembl:ENST00000421580) - c.257G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
RCV001359325 rs371152290 | 87 | A>V | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.31) Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000007.14:g.838980C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.838980C>T Locations: - p.Ala87Val (Ensembl:ENST00000421580) - c.260C>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs1336461378 | 89 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.841946A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841946A>T Locations: - p.Arg89Ser (Ensembl:ENST00000421580) - c.267A>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1350232664 | 90 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.841948C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841948C>G Locations: - p.Thr90Arg (Ensembl:ENST00000421580) - c.269C>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs2128296452 | 91 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000007.14:g.841950A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841950A>G Locations: - p.Thr91Ala (Ensembl:ENST00000421580) - c.271A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1393359610 | 92 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.841954A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841954A>C Locations: - p.Lys92Thr (Ensembl:ENST00000421580) - c.275A>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
CA4111461 RCV000538628 RCV003935428 rs78842948 | 93 | Q>P | SUN1-related disorder (ClinVar) Emery-Dreifuss muscular dystrophy (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.01817 (ClinVar) Accession: NC_000007.14:g.841957A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841957A>C Locations: - p.Gln93Pro (Ensembl:ENST00000421580) - c.278A>C (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) - SUN1-related disorder Source type: large scale study | |||||||
rs1335185963 | 94 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.841959C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841959C>T Locations: - p.Arg94Cys (Ensembl:ENST00000421580) - c.280C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV000796708 rs112598200 | 94 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.0004 (1000Genomes) - MAF: 0.0004 (ClinVar) Accession: NC_000007.14:g.841960G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841960G>A Locations: - p.R94H (NCI-TCGA:ENST00000421580) - p.Arg94His (Ensembl:ENST00000421580) - c.281G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs1264882281 | 95 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.841962A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841962A>G Locations: - p.Arg95Gly (Ensembl:ENST00000421580) - c.283A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1810469846 | 96 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.841966G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841966G>A Locations: - p.Ser96Asn (Ensembl:ENST00000421580) - c.287G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs536026654 | 97 | T>A | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.841968A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841968A>G Locations: - p.Thr97Ala (Ensembl:ENST00000421580) - c.289A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV001894057 RCV004039632 rs536026654 | 97 | T>S | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.33) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000007.14:g.841968A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841968A>T Locations: - p.Thr97Ser (Ensembl:ENST00000421580) - c.289A>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
COSV61777525 RCV001362911 rs1203009448 | 99 | K>R | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.15) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000007.14:g.841975A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841975A>G Locations: - p.Lys99Arg (Ensembl:ENST00000421580) - c.296A>G (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs1203009448 | 99 | K>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.841975A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841975A>C Locations: - p.Lys99Thr (Ensembl:ENST00000421580) - c.296A>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
COSV61779253 rs754552795 | 100 | S>A | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000007.14:g.841977T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841977T>G Locations: - p.Ser100Ala (Ensembl:ENST00000421580) - c.298T>G (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs769303158 | 101 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.841980G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841980G>A Locations: - p.Ala101Thr (Ensembl:ENST00000421580) - c.301G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1175062213 | 101 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.841981C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841981C>T Locations: - p.Ala101Val (Ensembl:ENST00000421580) - c.302C>T (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs771856676 | 103 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.841987G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841987G>A Locations: - p.Ser103Asn (Ensembl:ENST00000421580) - c.308G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1810486661 | 103 | S>R | Likely benign (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.841988T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841988T>A Locations: - p.Ser103Arg (Ensembl:ENST00000421580) - c.309T>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs779380234 | 104 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.841990T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841990T>C Locations: - p.Ile104Thr (Ensembl:ENST00000421580) - c.311T>C (Ensembl:ENST00000421580) Source type: large scale study | |||||||
rs999120053 | 104 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.841989A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841989A>G Locations: - p.Ile104Val (Ensembl:ENST00000421580) - c.310A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1382342252 | 105 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000007.14:g.841993A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841993A>G Locations: - p.Asn105Ser (Ensembl:ENST00000421580) - c.314A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1382342252 | 105 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.841993A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841993A>C Locations: - p.Asn105Thr (Ensembl:ENST00000421580) - c.314A>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs772702463 | 107 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000007.14:g.841999T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841999T>C Locations: - p.Val107Ala (Ensembl:ENST00000421580) - c.320T>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV001899765 rs376335038 | 107 | V>M | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated - low confidence (0.15) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000007.14:g.841998G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.841998G>A Locations: - p.Val107Met (Ensembl:ENST00000421580) - c.319G>A (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs1810500093 | 109 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.842004A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.842004A>G Locations: - p.Arg109Gly (Ensembl:ENST00000421580) - c.325A>G (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs778427452 | 109 | R>K | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.842005G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.842005G>A Locations: - p.Arg109Lys (Ensembl:ENST00000421580) - c.326G>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
RCV000791891 rs778427452 | 109 | R>T | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.842005G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.842005G>C Locations: - p.Arg109Thr (Ensembl:ENST00000421580) - c.326G>C (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study Cross-references: | |||||||
rs747459970 | 111 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.842010G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.842010G>A Locations: - p.Val111Ile (Ensembl:ENST00000421580) - c.331G>A (Ensembl:ENST00000421580) Source type: large scale study | |||||||
CA4111472 RCV000636865 RCV003992356 rs183872262 | 112 | T>M | Emery-Dreifuss muscular dystrophy (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000007.14:g.842014C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.842014C>T Locations: - p.Thr112Met (Ensembl:ENST00000421580) - c.335C>T (Ensembl:ENST00000421580) Disease association: - Emery-Dreifuss muscular dystrophy (EDMD) Source type: large scale study | |||||||
rs771160146 | 112 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.842013A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.842013A>C Locations: - p.Thr112Pro (Ensembl:ENST00000421580) - c.334A>C (Ensembl:ENST00000421580) Source type: large scale study Cross-references: | |||||||
rs1584546641 | 113 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.842017C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 7p22.3 Genomic location: NC_000007.14:g.842017C>A Locations: - p.Ser113Tyr (Ensembl:ENST00000421580) - c.338C>A (Ensembl:ENST00000421580) Source type: large scale study Cross-references: |