A0A0C4DG17 · A0A0C4DG17_HUMAN
- ProteinSmall ribosomal subunit protein uS2
- GeneRPSA
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids300 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2041939793 | 3 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000003.12:g.39407660G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407660G>A Locations: - p.Gly3Arg (Ensembl:ENST00000443003) - c.7G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1330548993 | 4 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39407663G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407663G>A Locations: - p.Ala4Thr (Ensembl:ENST00000443003) - c.10G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1453592566 | 7 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.39407672G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407672G>A Locations: - p.Val7Ile (Ensembl:ENST00000443003) - c.19G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
CA144716 RCV000054822 rs397514759 | 9 | Q>* | Familial isolated congenital asplenia (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.39407678C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407678C>T Locations: - p.Gln9Ter (Ensembl:ENST00000443003) - c.25C>T (Ensembl:ENST00000443003) Disease association: - Familial isolated congenital asplenia Source type: large scale study Cross-references: | |||||||
rs771384584 | 10 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39407681A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407681A>G Locations: - p.Met10Val (Ensembl:ENST00000443003) - c.28A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs774713610 | 18 | F>L | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39407707C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407707C>A Locations: - p.Phe18Leu (Ensembl:ENST00000443003) - c.54C>A (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1344450896 | 27 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.39407732G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407732G>A Locations: - p.Gly27Ser (Ensembl:ENST00000443003) - c.79G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1285718539 | 27 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39407733G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407733G>T Locations: - p.Gly27Val (Ensembl:ENST00000443003) - c.80G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1559398426 | 28 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39407736C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407736C>T Locations: - p.Thr28Ile (Ensembl:ENST00000443003) - c.83C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV100088047 rs1559398426 | 28 | T>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Accession: NC_000003.12:g.39407736C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407736C>G Locations: - p.Thr28Ser (Ensembl:ENST00000443003) - c.83C>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
COSV57191309 rs961062099 | 29 | N>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated - low confidence (0.06) Somatic: Yes Accession: NC_000003.12:g.39407739A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407739A>G Locations: - p.Asn29Ser (Ensembl:ENST00000443003) - c.86A>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1308467493 | 30 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39407741C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407741C>A Locations: - p.Leu30Ile (Ensembl:ENST00000443003) - c.88C>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1308467493 | 30 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.39407741C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407741C>G Locations: - p.Leu30Val (Ensembl:ENST00000443003) - c.88C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs752222852 | 31 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39407744G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407744G>C Locations: - p.Asp31His (Ensembl:ENST00000443003) - c.91G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1448752089 | 32 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39407749C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407749C>A Locations: - p.Phe32Leu (Ensembl:ENST00000443003) - c.96C>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1238166670 | 33 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39407750C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407750C>G Locations: - p.Gln33Glu (Ensembl:ENST00000443003) - c.97C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
CA352210142 RCV000522981 rs1553613060 | 34 | M>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.704) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39407753A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407753A>G Locations: - p.Met34Val (Ensembl:ENST00000443003) - c.100A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1381954909 | 35 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.39407756G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407756G>A Locations: - p.Glu35Lys (Ensembl:ENST00000443003) - c.103G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1381954909 | 35 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39407756G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407756G>C Locations: - p.Glu35Gln (Ensembl:ENST00000443003) - c.103G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs17856149 | 36 | Q>H | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39407761G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407761G>C Locations: - p.Gln36His (Ensembl:ENST00000443003) - c.108G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1450568819 | 36 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39407760A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407760A>T Locations: - p.Gln36Leu (Ensembl:ENST00000443003) - c.107A>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041940653 | 37 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39407763A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407763A>T Locations: - p.Tyr37Phe (Ensembl:ENST00000443003) - c.110A>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041940626 | 37 | Y>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39407762T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407762T>A Locations: - p.Tyr37Asn (Ensembl:ENST00000443003) - c.109T>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1390873231 | 39 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.709) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39407768T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407768T>C Locations: - p.Tyr39His (Ensembl:ENST00000443003) - c.115T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs763624834 | 43 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39407781G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39407781G>A Locations: - p.Ser43Asn (Ensembl:ENST00000443003) - c.128G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1284176153 | 46 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39408610C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408610C>G Locations: - p.Ile46Met (Ensembl:ENST00000443003) - c.138C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs752628562 | 48 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.39408614A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408614A>C Locations: - p.Ile48Leu (Ensembl:ENST00000443003) - c.142A>C (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1328793424 | 48 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39408615T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408615T>C Locations: - p.Ile48Thr (Ensembl:ENST00000443003) - c.143T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57191571 rs752628562 | 48 | I>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000003.12:g.39408614A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408614A>G Locations: - p.Ile48Val (Ensembl:ENST00000443003) - c.142A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1575255304 | 49 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39408617A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408617A>G Locations: - p.Ile49Val (Ensembl:ENST00000443003) - c.145A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041956462 | 52 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39408626A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408626A>C Locations: - p.Lys52Gln (Ensembl:ENST00000443003) - c.154A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1319167851 | 52 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000003.12:g.39408627A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408627A>G Locations: - p.Lys52Arg (Ensembl:ENST00000443003) - c.155A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041956520 | 53 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39408631G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408631G>T Locations: - p.Arg53Ser (Ensembl:ENST00000443003) - c.159G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
VAR_075092 CA144725 RCV000054827 rs397514762 | 54 | T>N | ICAS; reduced protein levels (UniProt) Familial isolated congenital asplenia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000003.12:g.39408633C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408633C>A Locations: - p.Thr54Asn (UniProt:P08865) - p.Thr54Asn (Ensembl:ENST00000443003) - c.161C>A (Ensembl:ENST00000443003) Disease association: - Asplenia, isolated congenital (ICAS) - Familial isolated congenital asplenia Source type: mixed Cross-references: | |||||||
RCV001298819 rs397514762 | 54 | T>S | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39408633C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408633C>G Locations: - p.Thr54Ser (Ensembl:ENST00000443003) - c.161C>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs757348877 | 56 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39408639A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408639A>G Locations: - p.Glu56Gly (Ensembl:ENST00000443003) - c.167A>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
VAR_075093 CA144727 RCV000054828 rs397514763 | 58 | L>F | ICAS; reduced protein levels (UniProt) Familial isolated congenital asplenia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000003.12:g.39408644C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408644C>T Locations: - p.Leu58Phe (UniProt:P08865) - p.Leu58Phe (Ensembl:ENST00000443003) - c.172C>T (Ensembl:ENST00000443003) Disease association: - Asplenia, isolated congenital (ICAS) - Familial isolated congenital asplenia Source type: mixed Cross-references: | |||||||
rs2041956647 | 59 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39408647C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408647C>A Locations: - p.Leu59Met (Ensembl:ENST00000443003) - c.175C>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs765372610 | 60 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39408650C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408650C>G Locations: - p.Leu60Val (Ensembl:ENST00000443003) - c.178C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1197554509 | 62 | A>G | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39408657C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408657C>G Locations: - p.Ala62Gly (Ensembl:ENST00000443003) - c.185C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs554479658 | 63 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000003.12:g.39408659C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408659C>T Locations: - p.Arg63Cys (Ensembl:ENST00000443003) - c.187C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs554479658 | 63 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39408659C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408659C>G Locations: - p.Arg63Gly (Ensembl:ENST00000443003) - c.187C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs780348162 | 64 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39408663C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408663C>T Locations: - p.Ala64Val (Ensembl:ENST00000443003) - c.191C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs747434456 | 65 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39408665A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408665A>G Locations: - p.Ile65Val (Ensembl:ENST00000443003) - c.193A>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
RCV001889688 rs2125592410 | 66 | V>F | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39408668G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408668G>T Locations: - p.Val66Phe (Ensembl:ENST00000443003) - c.196G>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs781714830 | 67 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39408672C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408672C>T Locations: - p.Ala67Val (Ensembl:ENST00000443003) - c.200C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041957142 | 68 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.39408675T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408675T>C Locations: - p.Ile68Thr (Ensembl:ENST00000443003) - c.203T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs748667898 | 68 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.39408674A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408674A>G Locations: - p.Ile68Val (Ensembl:ENST00000443003) - c.202A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2125592431 | 69 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.347) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39408677G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408677G>C Locations: - p.Glu69Gln (Ensembl:ENST00000443003) - c.205G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2125592432 | 70 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39408680A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408680A>G Locations: - p.Asn70Asp (Ensembl:ENST00000443003) - c.208A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1366435788 | 72 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39408686G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408686G>A Locations: - p.Ala72Thr (Ensembl:ENST00000443003) - c.214G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1386373873 | 72 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39408687C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408687C>T Locations: - p.Ala72Val (Ensembl:ENST00000443003) - c.215C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1321815796 | 75 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.39408696G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408696G>C Locations: - p.Ser75Thr (Ensembl:ENST00000443003) - c.224G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57192311 RCV001948829 rs893556660 | 77 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000003.12:g.39408702T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408702T>C Locations: - p.I77T (NCI-TCGA:ENST00000443003) - p.Ile77Thr (Ensembl:ENST00000443003) - c.230T>C (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1352088791 | 81 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39408714A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408714A>G Locations: - p.Asn81Ser (Ensembl:ENST00000443003) - c.242A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV001879357 rs2125592454 | 82 | T>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39408717C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408717C>G Locations: - p.Thr82Ser (Ensembl:ENST00000443003) - c.245C>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1292871551 | 86 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000003.12:g.39408728T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408728T>C Locations: - p.Cys86Arg (Ensembl:ENST00000443003) - c.256T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV002208336 rs2125592461 | 88 | T>missing | Likely benign (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000003.12:g.39408735_39408736del Consequence type: frameshift Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408735_39408736del Locations: - p.Thr88fs (ClinVar:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs773913524 | 88 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.39408734A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408734A>G Locations: - p.Thr88Ala (Ensembl:ENST00000443003) - c.262A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV002142175 rs2125592462 | 89 | V>missing | Likely benign (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000003.12:g.39408736_39408737del Consequence type: frameshift Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39408736_39408737del Locations: - p.Val89fs (ClinVar:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1389231836 | 96 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39410773C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410773C>G Locations: - p.Ala96Gly (Ensembl:ENST00000443003) - c.287C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1443201670 | 97 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39410775G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410775G>A Locations: - p.Ala97Thr (Ensembl:ENST00000443003) - c.289G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1398270817 | 99 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39410782C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410782C>T Locations: - p.Thr99Ile (Ensembl:ENST00000443003) - c.296C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV001937287 rs1402091973 | 104 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.000008025 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000003.12:g.39410796A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410796A>G Locations: - p.I104V (NCI-TCGA:ENST00000443003) - p.Ile104Val (Ensembl:ENST00000443003) - c.310A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57191243 rs929927797 | 107 | R>H | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated - low confidence (0.22) Somatic: Yes Accession: NC_000003.12:g.39410806G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410806G>A Locations: - p.Arg107His (Ensembl:ENST00000443003) - c.320G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041994935 | 108 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39410810C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410810C>G Locations: - p.Phe108Leu (Ensembl:ENST00000443003) - c.324C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1553613374 | 114 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.289) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410826A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410826A>G Locations: - p.Thr114Ala (Ensembl:ENST00000443003) - c.340A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57191434 rs1432387929 | 115 | N>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.39410829A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410829A>C Locations: - p.Asn115His (Ensembl:ENST00000443003) - c.343A>C (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs549281635 | 117 | I>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39410836T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410836T>C Locations: - p.Ile117Thr (Ensembl:ENST00000443003) - c.350T>C (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs753139064 | 119 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410842C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410842C>T Locations: - p.Ala119Val (Ensembl:ENST00000443003) - c.356C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs17854661 | 120 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39410844G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410844G>C Locations: - p.Ala120Pro (Ensembl:ENST00000443003) - c.358G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs17854661 | 120 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39410844G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410844G>A Locations: - p.Ala120Thr (Ensembl:ENST00000443003) - c.358G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs17856150 | 122 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410850C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410850C>G Locations: - p.Arg122Gly (Ensembl:ENST00000443003) - c.364C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1224798760 | 122 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000003.12:g.39410851G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410851G>A Locations: - p.Arg122Gln (Ensembl:ENST00000443003) - c.365G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
VAR_025522 rs17856150 | 122 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | UniProt TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.16) Somatic: No Population frequencies: - MAF: 0.00001249 (gnomAD) Accession: NC_000003.12:g.39410850C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410850C>T Locations: - p.R122W (NCI-TCGA:ENST00000443003) - p.Arg117Trp (UniProt:P08865) - p.Arg122Trp (Ensembl:ENST00000443003) - c.364C>T (Ensembl:ENST00000443003) Source type: mixed | |||||||
rs756583510 | 123 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.5) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39410855G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410855G>T Locations: - p.Glu123Asp (Ensembl:ENST00000443003) - c.369G>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
RCV002030429 rs778398856 | 125 | R>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410859C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410859C>G Locations: - p.Arg125Gly (Ensembl:ENST00000443003) - c.373C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs754451302 | 125 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39410860G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410860G>A Locations: - p.Arg125Gln (Ensembl:ENST00000443003) - c.374G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs778398856 | 125 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.39410859C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410859C>T Locations: - p.Arg125Trp (Ensembl:ENST00000443003) - c.373C>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs778293588 | 131 | D>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39410878A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410878A>C Locations: - p.Asp131Ala (Ensembl:ENST00000443003) - c.392A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs756824973 | 131 | D>N | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410877G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410877G>A Locations: - p.Asp131Asn (Ensembl:ENST00000443003) - c.391G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs745471263 | 133 | R>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39410885G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410885G>T Locations: - p.Arg133Ser (Ensembl:ENST00000443003) - c.399G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs768490458 | 135 | D>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410890A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410890A>C Locations: - p.Asp135Ala (Ensembl:ENST00000443003) - c.404A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs779860060 | 135 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39410889G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410889G>A Locations: - p.Asp135Asn (Ensembl:ENST00000443003) - c.403G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs779860060 | 135 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39410889G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410889G>T Locations: - p.Asp135Tyr (Ensembl:ENST00000443003) - c.403G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV106442983 rs776544127 | 136 | H>P | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000003.12:g.39410893A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410893A>C Locations: - p.His136Pro (Ensembl:ENST00000443003) - c.407A>C (Ensembl:ENST00000443003) Source type: large scale study | |||||||
COSV100088115 rs2041996119 | 137 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.39410897G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410897G>T Locations: - p.Q137H (NCI-TCGA:ENST00000443003) - p.Gln137His (Ensembl:ENST00000443003) - c.411G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV001961210 rs1033871561 | 140 | T>M | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.09) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000003.12:g.39410905C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410905C>T Locations: - p.Thr140Met (Ensembl:ENST00000443003) - c.419C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1387989945 | 143 | S>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39410914C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410914C>T Locations: - p.Ser143Phe (Ensembl:ENST00000443003) - c.428C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041996761 | 148 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39410928C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410928C>T Locations: - p.Pro148Ser (Ensembl:ENST00000443003) - c.442C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1286437565 | 149 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39410931A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410931A>G Locations: - p.Thr149Ala (Ensembl:ENST00000443003) - c.445A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV002019584 rs759760762 | 150 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000003.12:g.39410934A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410934A>G Locations: - p.Ile150Val (Ensembl:ENST00000443003) - c.448A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1224855868 | 151 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410937G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410937G>T Locations: - p.Ala151Ser (Ensembl:ENST00000443003) - c.451G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2041997066 | 157 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39410956C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410956C>G Locations: - p.Ser157Cys (Ensembl:ENST00000443003) - c.470C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1354193638 | 158 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39410959C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410959C>G Locations: - p.Pro158Arg (Ensembl:ENST00000443003) - c.473C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs764622302 | 158 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39410958C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410958C>T Locations: - p.Pro158Ser (Ensembl:ENST00000443003) - c.472C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs754332680 | 159 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39410961C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410961C>G Locations: - p.Leu159Val (Ensembl:ENST00000443003) - c.475C>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1490890120 | 160 | R>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000003.12:g.39410964C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410964C>T Locations: - p.Arg160Cys (Ensembl:ENST00000443003) - c.478C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV108121394 rs1030008082 | 160 | R>H | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.33) Somatic: Yes Accession: NC_000003.12:g.39410965G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410965G>A Locations: - p.Arg160His (Ensembl:ENST00000443003) - c.479G>A (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs151047013 | 161 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.39410968A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410968A>G Locations: - p.Tyr161Cys (Ensembl:ENST00000443003) - c.482A>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs151047013 | 161 | Y>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39410968A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410968A>T Locations: - p.Tyr161Phe (Ensembl:ENST00000443003) - c.482A>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs757967867 | 164 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.39410976A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410976A>G Locations: - p.Ile164Val (Ensembl:ENST00000443003) - c.490A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV001919025 rs1161964123 | 165 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000003.12:g.39410980C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410980C>T Locations: - p.Ala165Val (Ensembl:ENST00000443003) - c.494C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs868541000 | 168 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39410988T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410988T>G Locations: - p.Cys168Gly (Ensembl:ENST00000443003) - c.502T>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs868541000 | 168 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39410988T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39410988T>C Locations: - p.Cys168Arg (Ensembl:ENST00000443003) - c.502T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs756387621 | 176 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39411661G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411661G>C Locations: - p.Val176Leu (Ensembl:ENST00000443003) - c.526G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs756387621 | 176 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39411661G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411661G>A Locations: - p.Val176Met (Ensembl:ENST00000443003) - c.526G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV002042290 rs2125595921 | 179 | M>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411672G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411672G>A Locations: - p.Met179Ile (Ensembl:ENST00000443003) - c.537G>A (Ensembl:ENST00000443003) Source type: large scale study | |||||||
VAR_075094 CA144719 RCV000054824 rs397514760 | 180 | R>G | ICAS; reduced protein levels (UniProt) Familial isolated congenital asplenia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000003.12:g.39411688C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411688C>G Locations: - p.Arg180Gly (UniProt:P08865) - p.Arg185Gly (Ensembl:ENST00000443003) - c.553C>G (Ensembl:ENST00000443003) Disease association: - Asplenia, isolated congenital (ICAS) - Familial isolated congenital asplenia Source type: mixed Cross-references: | |||||||
VAR_075095 CA144721 RCV000054825 RCV003556138 rs397514760 | 180 | R>W | ICAS; reduced protein levels (UniProt) Familial isolated congenital asplenia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000003.12:g.39411688C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411688C>T Locations: - p.Arg180Trp (UniProt:P08865) - p.Arg185Trp (Ensembl:ENST00000443003) - c.553C>T (Ensembl:ENST00000443003) Disease association: - Asplenia, isolated congenital (ICAS) - Familial isolated congenital asplenia Source type: mixed Cross-references: | |||||||
rs535468802 | 181 | W>* | 1000Genomes ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.39411677G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411677G>A Locations: - p.Trp181Ter (Ensembl:ENST00000443003) - c.542G>A (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs771342697 | 182 | M>I | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411681G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411681G>C Locations: - p.Met182Ile (Ensembl:ENST00000443003) - c.546G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1305171467 | 182 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.372) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39411680T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411680T>C Locations: - p.Met182Thr (Ensembl:ENST00000443003) - c.545T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs774833578 | 185 | R>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39411689G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411689G>C Locations: - p.Arg185Pro (Ensembl:ENST00000443003) - c.554G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
VAR_075096 rs1214087389 | 185 | M>V | UniProt dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000003.12:g.39411703A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411703A>G Locations: - p.Met185Val (UniProt:P08865) - p.Met190Val (Ensembl:ENST00000443003) - c.568A>G (Ensembl:ENST00000443003) Source type: mixed | |||||||
rs746377766 | 186 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.592) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411692A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411692A>C Locations: - p.Glu186Ala (Ensembl:ENST00000443003) - c.557A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs746377766 | 186 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.425) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411692A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411692A>G Locations: - p.Glu186Gly (Ensembl:ENST00000443003) - c.557A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1575258506 | 187 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.882) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411695T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411695T>G Locations: - p.Val187Gly (Ensembl:ENST00000443003) - c.560T>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1241333304 | 189 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000003.12:g.39411700C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411700C>T Locations: - p.Arg189Cys (Ensembl:ENST00000443003) - c.565C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57192130 rs771423193 | 189 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.2) Somatic: Yes Population frequencies: - MAF: 0.000008242 (gnomAD) Accession: NC_000003.12:g.39411701G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411701G>A Locations: - p.R189H (NCI-TCGA:ENST00000443003) - p.Arg189His (Ensembl:ENST00000443003) - c.566G>A (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs775089606 | 190 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411704T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411704T>C Locations: - p.Met190Thr (Ensembl:ENST00000443003) - c.569T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
VAR_075097 CA144723 CM135109 RCV000054826 RCV002291553 rs397514761 | 191 | R>C | ICAS; reduced protein levels (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Familial isolated congenital asplenia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000003.12:g.39411706C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411706C>T Locations: - p.R191C (NCI-TCGA:ENST00000443003) - p.Arg186Cys (UniProt:P08865) - p.Arg191Cys (Ensembl:ENST00000443003) - c.571C>T (Ensembl:ENST00000443003) Disease association: - Asplenia, isolated congenital (ICAS) - Familial isolated congenital asplenia Source type: mixed Cross-references: - NCI-TCGA: CM135109 | |||||||
rs760207339 | 192 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.361) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411709G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411709G>A Locations: - p.Gly192Ser (Ensembl:ENST00000443003) - c.574G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042007805 | 193 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411713C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411713C>T Locations: - p.Thr193Ile (Ensembl:ENST00000443003) - c.578C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042007840 | 194 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411715A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411715A>G Locations: - p.Ile194Val (Ensembl:ENST00000443003) - c.580A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV104622322 rs1575258529 | 195 | S>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000003.12:g.39411719C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411719C>T Locations: - p.Ser195Phe (Ensembl:ENST00000443003) - c.584C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1014126728 | 196 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000003.12:g.39411721C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411721C>T Locations: - p.R196C (NCI-TCGA:ENST00000443003) - p.Arg196Cys (Ensembl:ENST00000443003) - c.586C>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
COSV100088006 rs1244938469 | 196 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated - low confidence (0.26) Somatic: Yes Population frequencies: - MAF: 0.000008274 (gnomAD) Accession: NC_000003.12:g.39411722G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411722G>A Locations: - p.R196H (NCI-TCGA:ENST00000443003) - p.Arg196His (Ensembl:ENST00000443003) - c.587G>A (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1244938469 | 196 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.595) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39411722G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411722G>C Locations: - p.Arg196Pro (Ensembl:ENST00000443003) - c.587G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV105113251 rs2042008052 | 199 | P>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000003.12:g.39411730C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411730C>T Locations: - p.Pro199Ser (Ensembl:ENST00000443003) - c.595C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1441392163 | 200 | W>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411734G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411734G>C Locations: - p.Trp200Ser (Ensembl:ENST00000443003) - c.599G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1575258548 | 202 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411740T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411740T>G Locations: - p.Val202Gly (Ensembl:ENST00000443003) - c.605T>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs763772216 | 202 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.39411739G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411739G>A Locations: - p.Val202Ile (Ensembl:ENST00000443003) - c.604G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
CA144718 RCV000054823 rs398122389 | 204 | P>missing | Familial isolated congenital asplenia (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000003.12:g.39411740_39411744dup Consequence type: frameshift Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411740_39411744dup Locations: - p.Pro204fs (ClinVar:ENST00000443003) Disease association: - Familial isolated congenital asplenia Source type: large scale study | |||||||
rs1437583272 | 211 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411768T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411768T>A Locations: - p.Asp211Glu (Ensembl:ENST00000443003) - c.633T>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1265587945 | 218 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.132) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39411906A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411906A>C Locations: - p.Glu218Ala (Ensembl:ENST00000443003) - c.653A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2125596138 | 219 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411909A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411909A>C Locations: - p.Glu219Ala (Ensembl:ENST00000443003) - c.656A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042011525 | 220 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411912A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411912A>C Locations: - p.Gln220Pro (Ensembl:ENST00000443003) - c.659A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042011560 | 221 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411915C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411915C>A Locations: - p.Ala221Asp (Ensembl:ENST00000443003) - c.662C>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2125596143 | 222 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411918C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411918C>T Locations: - p.Ala222Val (Ensembl:ENST00000443003) - c.665C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1417172552 | 223 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411920G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411920G>A Locations: - p.Ala223Thr (Ensembl:ENST00000443003) - c.667G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1376540112 | 226 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411930C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411930C>T Locations: - p.Ala226Val (Ensembl:ENST00000443003) - c.677C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs754000132 | 227 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411932G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411932G>C Locations: - p.Val227Leu (Ensembl:ENST00000443003) - c.679G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042011792 | 228 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411935A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411935A>C Locations: - p.Thr228Pro (Ensembl:ENST00000443003) - c.682A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs945515108 | 229 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39411939A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411939A>G Locations: - p.Lys229Arg (Ensembl:ENST00000443003) - c.686A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1311774996 | 230 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411942A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411942A>G Locations: - p.Glu230Gly (Ensembl:ENST00000443003) - c.689A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs757491498 | 234 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39411954G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411954G>T Locations: - p.Gly234Val (Ensembl:ENST00000443003) - c.701G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs779211109 | 238 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0.000004148 (gnomAD) Accession: NC_000003.12:g.39411966C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411966C>T Locations: - p.A238V (NCI-TCGA:ENST00000443003) - p.Ala238Val (Ensembl:ENST00000443003) - c.713C>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs1394620762 | 239 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39411969C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411969C>T Locations: - p.Pro239Leu (Ensembl:ENST00000443003) - c.716C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs17845059 | 240 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39411971G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411971G>T Locations: - p.Ala240Ser (Ensembl:ENST00000443003) - c.718G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs17845059 | 240 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000008278 (gnomAD) Accession: NC_000003.12:g.39411971G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411971G>A Locations: - p.A240T (NCI-TCGA:ENST00000443003) - p.Ala240Thr (Ensembl:ENST00000443003) - c.718G>A (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs2042012392 | 241 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39411975C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411975C>G Locations: - p.Pro241Arg (Ensembl:ENST00000443003) - c.722C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
RCV002039278 rs780597250 | 241 | P>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000003.12:g.39411974C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411974C>T Locations: - p.Pro241Ser (Ensembl:ENST00000443003) - c.721C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042012465 | 243 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.39411982C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411982C>A Locations: - p.Phe243Leu (Ensembl:ENST00000443003) - c.729C>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs11546158 | 244 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39411984C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411984C>T Locations: - p.Thr244Ile (Ensembl:ENST00000443003) - c.731C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs11546158 | 244 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411984C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411984C>G Locations: - p.Thr244Ser (Ensembl:ENST00000443003) - c.731C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042012552 | 245 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39411987C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411987C>T Locations: - p.Ala245Val (Ensembl:ENST00000443003) - c.734C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1189733400 | 246 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000003.12:g.39411989A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39411989A>G Locations: - p.Thr246Ala (Ensembl:ENST00000443003) - c.736A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1305245159 | 250 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39412001G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412001G>C Locations: - p.Val250Leu (Ensembl:ENST00000443003) - c.748G>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042012714 | 251 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39412005C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412005C>T Locations: - p.Ala251Val (Ensembl:ENST00000443003) - c.752C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs747541225 | 256 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.414) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39412019G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412019G>A Locations: - p.Gly256Ser (Ensembl:ENST00000443003) - c.766G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
VAR_075098 rs369708612 | 257 | V>G | UniProt ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000003.12:g.39412038T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412038T>G Locations: - p.Val257Gly (UniProt:P08865) - p.Val262Gly (Ensembl:ENST00000443003) - c.785T>G (Ensembl:ENST00000443003) Source type: mixed Cross-references: | |||||||
rs2042012791 | 257 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39412022G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412022G>T Locations: - p.Val257Leu (Ensembl:ENST00000443003) - c.769G>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57191156 rs1265647940 | 261 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000003.12:g.39412035C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412035C>T Locations: - p.S261F (NCI-TCGA:ENST00000443003) - p.Ser261Phe (Ensembl:ENST00000443003) - c.782C>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs747760223 | 261 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39412034T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412034T>C Locations: - p.Ser261Pro (Ensembl:ENST00000443003) - c.781T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1440753800 | 264 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39412044T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412044T>C Locations: - p.Ile264Thr (Ensembl:ENST00000443003) - c.791T>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs770697551 | 267 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39412053T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412053T>A Locations: - p.Phe267Tyr (Ensembl:ENST00000443003) - c.800T>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1575258845 | 269 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000003.12:g.39412058A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412058A>G Locations: - p.Thr269Ala (Ensembl:ENST00000443003) - c.805A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1420241894 | 269 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.527) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39412059C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412059C>A Locations: - p.Thr269Asn (Ensembl:ENST00000443003) - c.806C>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1575258845 | 269 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39412058A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412058A>C Locations: - p.Thr269Pro (Ensembl:ENST00000443003) - c.805A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1420241894 | 269 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.39412059C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412059C>G Locations: - p.Thr269Ser (Ensembl:ENST00000443003) - c.806C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2725 | 274 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000003.12:g.39412285G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412285G>A Locations: - p.Ala274Thr (Ensembl:ENST00000443003) - c.820G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs771968075 | 274 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39412286C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412286C>T Locations: - p.Ala274Val (Ensembl:ENST00000443003) - c.821C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1467191862 | 276 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39412291C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412291C>T Locations: - p.Pro276Ser (Ensembl:ENST00000443003) - c.826C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57190881 rs765368674 | 278 | T>M | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Accession: NC_000003.12:g.39412298C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412298C>T Locations: - p.Thr278Met (Ensembl:ENST00000443003) - c.833C>T (Ensembl:ENST00000443003) Source type: large scale study | |||||||
VAR_075099 rs143085301 | 278 | A>T | UniProt ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000003.12:g.39412312G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412312G>A Locations: - p.Ala278Thr (UniProt:P08865) - p.Ala283Thr (Ensembl:ENST00000443003) - c.847G>A (Ensembl:ENST00000443003) Source type: mixed Cross-references: | |||||||
rs1195725996 | 279 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39412301A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412301A>G Locations: - p.Glu279Gly (Ensembl:ENST00000443003) - c.836A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs763101797 | 282 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39412309T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412309T>G Locations: - p.Ser282Ala (Ensembl:ENST00000443003) - c.844T>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1165017658 | 283 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39412313C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412313C>G Locations: - p.Ala283Gly (Ensembl:ENST00000443003) - c.848C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs751903033 | 286 | T>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.39412321A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412321A>G Locations: - p.Thr286Ala (Ensembl:ENST00000443003) - c.856A>G (Ensembl:ENST00000443003) Source type: large scale study | |||||||
rs935747845 | 287 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.39412325C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412325C>G Locations: - p.Ala287Gly (Ensembl:ENST00000443003) - c.860C>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs755417477 | 288 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.39412327C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412327C>T Locations: - p.Gln288Ter (Ensembl:ENST00000443003) - c.862C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs914278263 | 289 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.39412331C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412331C>T Locations: - p.Ala289Val (Ensembl:ENST00000443003) - c.866C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs768120909 | 290 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.39412333A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412333A>G Locations: - p.Thr290Ala (Ensembl:ENST00000443003) - c.868A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs2042017114 | 291 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39412337A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412337A>C Locations: - p.Glu291Ala (Ensembl:ENST00000443003) - c.872A>C (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs755617013 | 293 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.19) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.39412342G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412342G>A Locations: - p.Val293Ile (Ensembl:ENST00000443003) - c.877G>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs1381056127 | 296 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39412352C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412352C>T Locations: - p.Thr296Ile (Ensembl:ENST00000443003) - c.887C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs748920180 | 297 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.39412354A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412354A>G Locations: - p.Thr297Ala (Ensembl:ENST00000443003) - c.889A>G (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
COSV57192381 rs991623989 | 298 | D>E | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000003.12:g.39412359C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412359C>A Locations: - p.Asp298Glu (Ensembl:ENST00000443003) - c.894C>A (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs778669813 | 300 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39412364C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412364C>T Locations: - p.Ser300Phe (Ensembl:ENST00000443003) - c.899C>T (Ensembl:ENST00000443003) Source type: large scale study Cross-references: | |||||||
rs756888899 | 300 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.39412363T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 3p22.1 Genomic location: NC_000003.12:g.39412363T>C Locations: - p.Ser300Pro (Ensembl:ENST00000443003) - c.898T>C (Ensembl:ENST00000443003) Source type: large scale study |