K7EJC4 · K7EJC4_HUMAN
- ProteinSynaptotagmin 5
- GeneSYT5
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids152 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1489190264 | 3 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.55179035G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179035G>C Locations: - p.Pro3Ala (Ensembl:ENST00000592470) - c.7C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1265566461 | 3 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000019.10:g.55179034G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179034G>A Locations: - p.Pro3Leu (Ensembl:ENST00000592470) - c.8C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
VAR_052240 COSV54748847 rs2301279 | 4 | E>D | UniProt cosmic curated 1000Genomes ExAC TOPMed gnomAD dbSNP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000019.10:g.55179030C>A, NC_000019.10:g.55179030C>G Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179030C>A, NC_000019.10:g.55179030C>G Locations: - p.Glu4Asp (Ensembl:ENST00000592470) - c.12G>T (Ensembl:ENST00000592470) - p.Glu4Asp (UniProt:O00445) - c.12G>C (Ensembl:ENST00000592470) Source type: mixed | |||||||
rs1599948676 | 6 | P>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.55179026G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179026G>A Locations: - p.Pro6Ser (Ensembl:ENST00000592470) - c.16C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs756811651 | 7 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.55179023T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179023T>C Locations: - p.Thr7Ala (Ensembl:ENST00000592470) - c.19A>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1652068738 | 8 | P>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.55179019G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179019G>A Locations: - p.Pro8Leu (Ensembl:ENST00000592470) - c.23C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086113073 | 8 | P>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.55179020G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179020G>A Locations: - p.Pro8Ser (Ensembl:ENST00000592470) - c.22C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs777516238 | 10 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55179013G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179013G>A Locations: - p.Pro10Leu (Ensembl:ENST00000592470) - c.29C>T (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs2086112737 | 11 | P>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.55179010G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179010G>T Locations: - p.Pro11Gln (Ensembl:ENST00000592470) - c.32C>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086112704 | 12 | S>W | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55179007G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179007G>C Locations: - p.Ser12Trp (Ensembl:ENST00000592470) - c.35C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086112575 | 13 | P>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.55179004G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179004G>A Locations: - p.Pro13Leu (Ensembl:ENST00000592470) - c.38C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs201746906 | 13 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000019.10:g.55179005G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55179005G>A Locations: - p.Pro13Ser (Ensembl:ENST00000592470) - c.37C>T (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs2086112469 | 15 | T>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.55178998G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178998G>A Locations: - p.Thr15Met (Ensembl:ENST00000592470) - c.44C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1294262569 | 15 | T>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.55178999T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178999T>A Locations: - p.Thr15Ser (Ensembl:ENST00000592470) - c.43A>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs879102667 | 17 | P>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.55178993G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178993G>C Locations: - p.Pro17Ala (Ensembl:ENST00000592470) - c.49C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs761119101 | 17 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55178992G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178992G>C Locations: - p.Pro17Arg (Ensembl:ENST00000592470) - c.50C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs751013867 | 18 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55178990C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178990C>T Locations: - p.Asp18Asn (Ensembl:ENST00000592470) - c.52G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
COSV99671133 rs751013867 | 18 | D>Y | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.55178990C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178990C>A Locations: - p.Asp18Tyr (Ensembl:ENST00000592470) - c.52G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1381362363 | 20 | S>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.55178984T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178984T>C Locations: - p.Ser20Gly (Ensembl:ENST00000592470) - c.58A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086112155 | 20 | S>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55178983C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178983C>A Locations: - p.Ser20Ile (Ensembl:ENST00000592470) - c.59G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs768104737 | 21 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55178981G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178981G>C Locations: - p.Arg21Gly (Ensembl:ENST00000592470) - c.61C>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
COSV54747339 rs761982837 | 21 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000019.10:g.55178980C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178980C>T Locations: - p.Arg21His (Ensembl:ENST00000592470) - c.62G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV99671637 rs761982837 | 21 | R>P | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000019.10:g.55178980C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178980C>G Locations: - p.Arg21Pro (Ensembl:ENST00000592470) - c.62G>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs768104737 | 21 | R>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.55178981G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178981G>T Locations: - p.Arg21Ser (Ensembl:ENST00000592470) - c.61C>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1453010072 | 22 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.55178978T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178978T>A Locations: - p.Ile22Phe (Ensembl:ENST00000592470) - c.64A>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs768932757 | 23 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55178975T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178975T>A Locations: - p.Ser23Cys (Ensembl:ENST00000592470) - c.67A>T (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs768932757 | 23 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.55178975T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178975T>C Locations: - p.Ser23Gly (Ensembl:ENST00000592470) - c.67A>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs763015808 | 23 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.55178974C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178974C>T Locations: - p.Ser23Asn (Ensembl:ENST00000592470) - c.68G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs768932757 | 23 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000019.10:g.55178975T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178975T>G Locations: - p.Ser23Arg (Ensembl:ENST00000592470) - c.67A>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs763015808 | 23 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.55178974C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178974C>G Locations: - p.Ser23Thr (Ensembl:ENST00000592470) - c.68G>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs775772898 | 24 | H>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55178971T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178971T>A Locations: - p.His24Leu (Ensembl:ENST00000592470) - c.71A>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs745642654 | 25 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000019.10:g.55178968C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178968C>T Locations: - p.Gly25Asp (Ensembl:ENST00000592470) - c.74G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs76590231 | 27 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.55178963C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178963C>T Locations: - p.Val27Met (Ensembl:ENST00000592470) - c.79G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086101686 | 28 | P>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.55178366G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178366G>C Locations: - p.Pro28Ala (Ensembl:ENST00000592470) - c.82C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs752062402 | 28 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.55178365G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178365G>A Locations: - p.Pro28Leu (Ensembl:ENST00000592470) - c.83C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs537732381 | 29 | P>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.55178362G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178362G>T Locations: - p.Pro29His (Ensembl:ENST00000592470) - c.86C>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV54746762 rs537732381 | 29 | P>L | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000019.10:g.55178362G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178362G>A Locations: - p.Pro29Leu (Ensembl:ENST00000592470) - c.86C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs537732381 | 29 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.55178362G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178362G>C Locations: - p.Pro29Arg (Ensembl:ENST00000592470) - c.86C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs765467744 | 30 | W>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.55178359C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178359C>T Locations: - p.Trp30Ter (Ensembl:ENST00000592470) - c.89G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1219335741 | 30 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.55178358C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178358C>T Locations: - p.Trp30Ter (Ensembl:ENST00000592470) - c.90G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1219335741 | 30 | W>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178358C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178358C>A Locations: - p.Trp30Cys (Ensembl:ENST00000592470) - c.90G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs181797959 | 34 | T>A | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.86) Somatic: No Accession: NC_000019.10:g.55178348T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178348T>C Locations: - p.Thr34Ala (Ensembl:ENST00000592470) - c.100A>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs776419997 | 36 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.96) Somatic: No Accession: NC_000019.10:g.55178342C>G, NC_000019.10:g.55178342C>A Codon: GTG/CTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178342C>G, NC_000019.10:g.55178342C>A Locations: - p.Val36Leu (Ensembl:ENST00000592470) - c.106G>C (Ensembl:ENST00000592470) - c.106G>T (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs776419997 | 36 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55178342C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178342C>T Locations: - p.Val36Met (Ensembl:ENST00000592470) - c.106G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs2086101221 | 37 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178338A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178338A>T Locations: - p.Leu37Gln (Ensembl:ENST00000592470) - c.110T>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086101145 | 38 | V>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.86) Somatic: No Accession: NC_000019.10:g.55178336C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178336C>T Locations: - p.Val38Ile (Ensembl:ENST00000592470) - c.112G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1875466078 | 39 | S>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.55178333A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178333A>G Locations: - p.Ser39Pro (Ensembl:ENST00000592470) - c.115T>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1568879533 | 40 | G>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.55178329C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178329C>A Locations: - p.Gly40Val (Ensembl:ENST00000592470) - c.119G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086100998 | 41 | L>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.55178327G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178327G>T Locations: - p.Leu41Ile (Ensembl:ENST00000592470) - c.121C>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs371106042 | 41 | L>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178326A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178326A>G Locations: - p.Leu41Pro (Ensembl:ENST00000592470) - c.122T>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs983435346 | 43 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178320A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178320A>T Locations: - p.Ile43Asn (Ensembl:ENST00000592470) - c.128T>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs555752007 | 44 | F>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.55178318A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178318A>G Locations: - p.Phe44Leu (Ensembl:ENST00000592470) - c.130T>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs950834783 | 45 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.55178314C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178314C>T Locations: - p.Ser45Asn (Ensembl:ENST00000592470) - c.134G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1466761507 | 46 | C>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178310G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178310G>C Locations: - p.Cys46Trp (Ensembl:ENST00000592470) - c.138C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1027690294 | 47 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.55178308C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178308C>T Locations: - p.Cys47Tyr (Ensembl:ENST00000592470) - c.140G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs772003863 | 49 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.55178302C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178302C>T Locations: - p.Cys49Tyr (Ensembl:ENST00000592470) - c.146G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
COSV105842126 rs986946876 | 51 | Y>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000019.10:g.55178296T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178296T>C Locations: - p.Tyr51Cys (Ensembl:ENST00000592470) - c.152A>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs2086100542 | 51 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000019.10:g.55178297A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178297A>G Locations: - p.Tyr51His (Ensembl:ENST00000592470) - c.151T>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs986946876 | 51 | Y>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.55178296T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178296T>G Locations: - p.Tyr51Ser (Ensembl:ENST00000592470) - c.152A>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs761426547 | 52 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55178294G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178294G>C Locations: - p.Arg52Gly (Ensembl:ENST00000592470) - c.154C>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs773937460 | 52 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178293C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178293C>T Locations: - p.Arg52Gln (Ensembl:ENST00000592470) - c.155G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs761426547 | 52 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00002859 (gnomAD) Accession: NC_000019.10:g.55178294G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178294G>A Locations: - p.R52W (NCI-TCGA:ENST00000592470) - p.Arg52Trp (Ensembl:ENST00000592470) - c.154C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086100356 | 54 | S>G | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.55178288T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178288T>C Locations: - p.Ser54Gly (Ensembl:ENST00000592470) - c.160A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs749015608 | 55 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.55178285A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178285A>G Locations: - p.Cys55Arg (Ensembl:ENST00000592470) - c.163T>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs771247354 | 55 | C>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.55178284C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178284C>G Locations: - p.Cys55Ser (Ensembl:ENST00000592470) - c.164G>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs771247354 | 55 | C>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.55178284C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178284C>T Locations: - p.Cys55Tyr (Ensembl:ENST00000592470) - c.164G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs373346720 | 56 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178281C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178281C>A Locations: - p.Arg56Leu (Ensembl:ENST00000592470) - c.167G>T (Ensembl:ENST00000592470) Source type: large scale study | |||||||
COSV54745528 rs373346720 | 56 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00002456 (gnomAD) Accession: NC_000019.10:g.55178281C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178281C>T Locations: - p.R56Q (NCI-TCGA:ENST00000592470) - p.Arg56Gln (Ensembl:ENST00000592470) - c.167G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs747366969 | 56 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178282G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178282G>A Locations: - p.Arg56Trp (Ensembl:ENST00000592470) - c.166C>T (Ensembl:ENST00000592470) Source type: large scale study | |||||||
COSV54747761 rs141150330 | 58 | R>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.55178275C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178275C>T Locations: - p.Arg58Gln (Ensembl:ENST00000592470) - c.173G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
COSV99671046 rs752788782 | 58 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001238 (gnomAD) Accession: NC_000019.10:g.55178276G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178276G>A Locations: - p.R58W (NCI-TCGA:ENST00000592470) - p.Arg58Trp (Ensembl:ENST00000592470) - c.172C>T (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1357047172 | 59 | T>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.55178273T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178273T>C Locations: - p.Thr59Ala (Ensembl:ENST00000592470) - c.175A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs145063347 | 59 | T>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.55178272G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178272G>A Locations: - p.Thr59Ile (Ensembl:ENST00000592470) - c.176C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV54750426 rs145063347 | 59 | T>R | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.55178272G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178272G>C Locations: - p.Thr59Arg (Ensembl:ENST00000592470) - c.176C>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs766604380 | 60 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.55178269C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178269C>G Locations: - p.Gly60Ala (Ensembl:ENST00000592470) - c.179G>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs766604380 | 60 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.55178269C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178269C>T Locations: - p.Gly60Asp (Ensembl:ENST00000592470) - c.179G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs2086099693 | 61 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55178265C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178265C>G Locations: - p.Lys61Asn (Ensembl:ENST00000592470) - c.183G>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086099642 | 64 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.55178258G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178258G>C Locations: - p.Gln64Glu (Ensembl:ENST00000592470) - c.190C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs750181199 | 65 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.55178255C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178255C>G Locations: - p.Ala65Pro (Ensembl:ENST00000592470) - c.193G>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs750181199 | 65 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.55178255C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178255C>T Locations: - p.Ala65Thr (Ensembl:ENST00000592470) - c.193G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1599947297 | 65 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.55178254G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178254G>A Locations: - p.Ala65Val (Ensembl:ENST00000592470) - c.194C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1023650234 | 67 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.85) Somatic: No Accession: NC_000019.10:g.55178248G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178248G>C Locations: - p.Ala67Gly (Ensembl:ENST00000592470) - c.200C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086099388 | 68 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.55178246G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178246G>C Locations: - p.Gln68Glu (Ensembl:ENST00000592470) - c.202C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086099327 | 68 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000019.10:g.55178244C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178244C>G Locations: - p.Gln68His (Ensembl:ENST00000592470) - c.204G>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1439774790 | 69 | V>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.55178243C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178243C>T Locations: - p.Val69Ile (Ensembl:ENST00000592470) - c.205G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs761771414 | 70 | H>N | ExAC TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.55178240G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178240G>T Locations: - p.His70Asn (Ensembl:ENST00000592470) - c.208C>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086099102 | 70 | H>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.55178239T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178239T>C Locations: - p.His70Arg (Ensembl:ENST00000592470) - c.209A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs761771414 | 70 | H>Y | ExAC TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55178240G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178240G>A Locations: - p.His70Tyr (Ensembl:ENST00000592470) - c.208C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs945017037 | 71 | L>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.55178237G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178237G>A Locations: - p.Leu71Phe (Ensembl:ENST00000592470) - c.211C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs774426112 | 71 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178236A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178236A>C Locations: - p.Leu71Arg (Ensembl:ENST00000592470) - c.212T>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086098989 | 72 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178233T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178233T>G Locations: - p.Gln72Pro (Ensembl:ENST00000592470) - c.215A>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs768339461 | 73 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55178231C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178231C>T Locations: - p.Glu73Lys (Ensembl:ENST00000592470) - c.217G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1158346507 | 74 | V>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178228C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178228C>G Locations: - p.Val74Leu (Ensembl:ENST00000592470) - c.220G>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1568879239 | 75 | K>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178224T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178224T>G Locations: - p.Lys75Thr (Ensembl:ENST00000592470) - c.224A>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV54747559 rs147841968 | 76 | G>E | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.55178221C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178221C>T Locations: - p.Gly76Glu (Ensembl:ENST00000592470) - c.227G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086098713 | 76 | G>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.55178222C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178222C>T Locations: - p.Gly76Arg (Ensembl:ENST00000592470) - c.226G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs147841968 | 76 | G>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.55178221C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178221C>A Locations: - p.Gly76Val (Ensembl:ENST00000592470) - c.227G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs775043079 | 77 | L>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178219G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178219G>T Locations: - p.Leu77Met (Ensembl:ENST00000592470) - c.229C>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs370240780 | 80 | S>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55178209C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178209C>T Locations: - p.Ser80Asn (Ensembl:ENST00000592470) - c.239G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1599947196 | 80 | S>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55178208A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178208A>C Locations: - p.Ser80Arg (Ensembl:ENST00000592470) - c.240T>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV54750216 rs1452046473 | 82 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.000004257 (gnomAD) Accession: NC_000019.10:g.55178203A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178203A>G Locations: - p.I82T (NCI-TCGA:ENST00000592470) - p.Ile82Thr (Ensembl:ENST00000592470) - c.245T>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1223884069 | 82 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: NC_000019.10:g.55178204T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178204T>C Locations: - p.Ile82Val (Ensembl:ENST00000592470) - c.244A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086098290 | 83 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.55178200T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178200T>C Locations: - p.Asp83Gly (Ensembl:ENST00000592470) - c.248A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV105040339 rs747357557 | 83 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000019.10:g.55178201C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55178201C>T Locations: - p.Asp83Asn (Ensembl:ENST00000592470) - c.247G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086074430 | 86 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55176120T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176120T>C Locations: - p.Gln86Arg (Ensembl:ENST00000592470) - c.257A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs527419206 | 89 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.55176112C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176112C>T Locations: - p.Val89Ile (Ensembl:ENST00000592470) - c.265G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086074162 | 93 | E>D | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000019.10:g.55176098C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176098C>A Locations: - p.Glu93Asp (Ensembl:ENST00000592470) - c.279G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs748493556 | 93 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.55176100C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176100C>G Locations: - p.Glu93Gln (Ensembl:ENST00000592470) - c.277G>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1168697264 | 97 | S>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55176087G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176087G>C Locations: - p.Ser97Cys (Ensembl:ENST00000592470) - c.290C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1263815848 | 98 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.55176085C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176085C>T Locations: - p.Gly98Arg (Ensembl:ENST00000592470) - c.292G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1263815848 | 98 | G>W | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55176085C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176085C>A Locations: - p.Gly98Trp (Ensembl:ENST00000592470) - c.292G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1318941677 | 99 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.55176081G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176081G>T Locations: - p.Pro99Gln (Ensembl:ENST00000592470) - c.296C>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs774882460 | 99 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.55176082G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176082G>A Locations: - p.Pro99Ser (Ensembl:ENST00000592470) - c.295C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV104669925 rs749339915 | 100 | G>E | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000019.10:g.55176078C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176078C>T Locations: - p.Gly100Glu (Ensembl:ENST00000592470) - c.299G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs561836708 | 102 | Q>H | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.55176071C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176071C>G Locations: - p.Gln102His (Ensembl:ENST00000592470) - c.306G>C (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs377568820 | 103 | V>M | ESP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.55176070C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176070C>T Locations: - p.Val103Met (Ensembl:ENST00000592470) - c.307G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1045914 | 104 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.55176067C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176067C>T Locations: - p.Ala104Thr (Ensembl:ENST00000592470) - c.310G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1255590622 | 105 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55176063T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176063T>A Locations: - p.Asp105Val (Ensembl:ENST00000592470) - c.314A>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs781247231 | 110 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55176049C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176049C>T Locations: - p.Gly110Arg (Ensembl:ENST00000592470) - c.328G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
VAR_034528 rs11542503 | 111 | R>Q | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.55176045C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176045C>T Locations: - p.Arg111Gln (UniProt:O00445) - p.Arg111Gln (Ensembl:ENST00000592470) - c.332G>A (Ensembl:ENST00000592470) Source type: mixed Cross-references: | |||||||
rs1192409501 | 113 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55176038C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176038C>A Locations: - p.Gln113His (Ensembl:ENST00000592470) - c.339G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086073284 | 114 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55176036T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176036T>C Locations: - p.Tyr114Cys (Ensembl:ENST00000592470) - c.341A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1423886244 | 115 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.55176033G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176033G>A Locations: - p.Ser115Phe (Ensembl:ENST00000592470) - c.344C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs557331826 | 118 | Y>* | 1000Genomes TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.55176023A>C Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176023A>C Locations: - p.Tyr118Ter (Ensembl:ENST00000592470) - c.354T>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs148666325 | 119 | D>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55176020G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176020G>C Locations: - p.Asp119Glu (Ensembl:ENST00000592470) - c.357C>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs764151845 | 119 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55176022C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176022C>T Locations: - p.Asp119Asn (Ensembl:ENST00000592470) - c.355G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs764868578 | 121 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.55176016G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176016G>A Locations: - p.Gln121Ter (Ensembl:ENST00000592470) - c.361C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2147331108 | 121 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55176014C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176014C>G Locations: - p.Gln121His (Ensembl:ENST00000592470) - c.363G>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086072868 | 122 | S>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55176011A>C, NC_000019.10:g.55176011A>T Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176011A>C, NC_000019.10:g.55176011A>T Locations: - p.Ser122Arg (Ensembl:ENST00000592470) - c.366T>G (Ensembl:ENST00000592470) - c.366T>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs144089464 | 123 | G>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.55176009C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176009C>T Locations: - p.Gly123Asp (Ensembl:ENST00000592470) - c.368G>A (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1405838423 | 124 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.55176007G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55176007G>A Locations: - p.Gln124Ter (Ensembl:ENST00000592470) - c.370C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086070964 | 129 | I>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175863A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175863A>G Locations: - p.Ile129Thr (Ensembl:ENST00000592470) - c.386T>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2147330828 | 131 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175856T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175856T>G Locations: - p.Gln131His (Ensembl:ENST00000592470) - c.393A>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2147330832 | 131 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175857T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175857T>G Locations: - p.Gln131Pro (Ensembl:ENST00000592470) - c.392A>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2147330824 | 132 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175855C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175855C>A Locations: - p.A132S (NCI-TCGA:ENST00000592470) - p.Ala132Ser (Ensembl:ENST00000592470) - c.394G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2147330816 | 132 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175854G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175854G>A Locations: - p.Ala132Val (Ensembl:ENST00000592470) - c.395C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086070882 | 133 | M>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.55175851A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175851A>G Locations: - p.Met133Thr (Ensembl:ENST00000592470) - c.398T>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs369119323 | 133 | M>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175852T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175852T>C Locations: - p.Met133Val (Ensembl:ENST00000592470) - c.397A>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1267792377 | 134 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55175849C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175849C>T Locations: - p.Gly134Arg (Ensembl:ENST00000592470) - c.400G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1223617740 | 134 | G>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175848C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175848C>A Locations: - p.Gly134Val (Ensembl:ENST00000592470) - c.401G>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs765068525 | 136 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55175842G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175842G>C Locations: - p.Ala136Gly (Ensembl:ENST00000592470) - c.407C>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs754560129 | 138 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175837A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175837A>C Locations: - p.Leu138Val (Ensembl:ENST00000592470) - c.412T>G (Ensembl:ENST00000592470) Source type: large scale study | |||||||
rs1336634972 | 139 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175833T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175833T>C Locations: - p.Asp139Gly (Ensembl:ENST00000592470) - c.416A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1322823837 | 139 | D>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175834C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175834C>T Locations: - p.Asp139Asn (Ensembl:ENST00000592470) - c.415G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs766044437 | 140 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.55175831G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175831G>T Locations: - p.Leu140Ile (Ensembl:ENST00000592470) - c.418C>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs149508178 | 142 | G>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175824C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175824C>G Locations: - p.Gly142Ala (Ensembl:ENST00000592470) - c.425G>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2086070423 | 143 | S>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175822A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175822A>C Locations: - p.Ser143Ala (Ensembl:ENST00000592470) - c.427T>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV105279482 rs750069705 | 143 | S>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.55175821G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175821G>A Locations: - p.Ser143Phe (Ensembl:ENST00000592470) - c.428C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs374784329 | 144 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000019.10:g.55175818G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175818G>A Locations: - p.S144L (NCI-TCGA:ENST00000592470) - p.Ser144Leu (Ensembl:ENST00000592470) - c.431C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs2147330687 | 145 | D>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175815T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175815T>G Locations: - p.Asp145Ala (Ensembl:ENST00000592470) - c.434A>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1599944461 | 145 | D>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175814G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175814G>T Locations: - p.Asp145Glu (Ensembl:ENST00000592470) - c.435C>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV62831026 rs1352113939 | 146 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.55175812G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175812G>A Locations: - p.P146L (NCI-TCGA:ENST00000592470) - p.Pro146Leu (Ensembl:ENST00000592470) - c.437C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1352113939 | 146 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.55175812G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175812G>C Locations: - p.Pro146Arg (Ensembl:ENST00000592470) - c.437C>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV62830182 rs2086070108 | 149 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.55175803C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175803C>T Locations: - p.Arg149Gln (Ensembl:ENST00000592470) - c.446G>A (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
COSV62831233 rs2086070149 | 149 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.55175804G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175804G>A Locations: - p.R149W (NCI-TCGA:ENST00000592470) - p.Arg149Trp (Ensembl:ENST00000592470) - c.445C>T (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs1376725238 | 151 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.55175797T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175797T>C Locations: - p.Tyr151Cys (Ensembl:ENST00000592470) - c.452A>G (Ensembl:ENST00000592470) Source type: large scale study Cross-references: | |||||||
rs776105632 | 151 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.55175798A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.42 Genomic location: NC_000019.10:g.55175798A>G Locations: - p.Tyr151His (Ensembl:ENST00000592470) - c.451T>C (Ensembl:ENST00000592470) Source type: large scale study Cross-references: |