E9PN02 · E9PN02_HUMAN
- ProteinSRY-box transcription factor 6
- GeneSOX6
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids139 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1856623776 | 3 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341242A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341242A>C Locations: - p.Ser3Ala (Ensembl:ENST00000526673) - c.7T>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs775402443 | 4 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341239T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341239T>C Locations: - p.Lys4Glu (Ensembl:ENST00000526673) - c.10A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1364538956 | 6 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.16341233C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341233C>T Locations: - p.Ala6Thr (Ensembl:ENST00000526673) - c.16G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
RCV001843710 rs2134341240 | 6 | A>V | Developmental disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341232G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341232G>A Locations: - p.Ala6Val (Ensembl:ENST00000526673) - c.17C>T (Ensembl:ENST00000526673) Disease association: - Developmental disorder Source type: large scale study | |||||||
rs1161227001 | 7 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.377) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341229G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341229G>A Locations: - p.Thr7Ile (Ensembl:ENST00000526673) - c.20C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1407984611 | 10 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341220A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341220A>C Locations: - p.Phe10Cys (Ensembl:ENST00000526673) - c.29T>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1407984611 | 10 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341220A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341220A>G Locations: - p.Phe10Ser (Ensembl:ENST00000526673) - c.29T>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1157988750 | 12 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.38) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341214C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341214C>A Locations: - p.Cys12Phe (Ensembl:ENST00000526673) - c.35G>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1157988750 | 12 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.38) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341214C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341214C>T Locations: - p.Cys12Tyr (Ensembl:ENST00000526673) - c.35G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1856622178 | 17 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341199T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341199T>C Locations: - p.Glu17Gly (Ensembl:ENST00000526673) - c.50A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1318938500 | 17 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341200C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341200C>G Locations: - p.Glu17Gln (Ensembl:ENST00000526673) - c.49G>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs763264234 | 18 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000011.10:g.16341195A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341195A>C Locations: - p.Asp18Glu (Ensembl:ENST00000526673) - c.54T>G (Ensembl:ENST00000526673) Source type: large scale study | |||||||
COSV57043798 rs773497953 | 19 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.36) Somatic: Yes Accession: NC_000011.10:g.16341194C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341194C>T Locations: - p.Ala19Thr (Ensembl:ENST00000526673) - c.55G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1267065649 | 20 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.16341191T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341191T>C Locations: - p.Met20Val (Ensembl:ENST00000526673) - c.58A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57050133 rs1247349237 | 21 | T>A | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000011.10:g.16341188T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341188T>C Locations: - p.Thr21Ala (Ensembl:ENST00000526673) - c.61A>G (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs770132026 | 21 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.16341187G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341187G>A Locations: - p.Thr21Ile (Ensembl:ENST00000526673) - c.62C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs770132026 | 21 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.16341187G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341187G>T Locations: - p.Thr21Asn (Ensembl:ENST00000526673) - c.62C>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs748308456 | 23 | D>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341182C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341182C>G Locations: - p.Asp23His (Ensembl:ENST00000526673) - c.67G>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
COSV100322455 rs748308456 | 23 | D>Y | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16341182C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341182C>A Locations: - p.Asp23Tyr (Ensembl:ENST00000526673) - c.67G>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1159606984 | 24 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.16341177T>G Codon: TTA/TTC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341177T>G Locations: - p.Leu24Phe (Ensembl:ENST00000526673) - c.72A>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs781393047 | 25 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000011.10:g.16341175G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341175G>A Locations: - p.Thr25Ile (Ensembl:ENST00000526673) - c.74C>T (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs781393047 | 25 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341175G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341175G>T Locations: - p.Thr25Asn (Ensembl:ENST00000526673) - c.74C>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs2134341109 | 28 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341167C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341167C>T Locations: - p.Glu28Lys (Ensembl:ENST00000526673) - c.82G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs769338518 | 29 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341164T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341164T>C Locations: - p.Lys29Glu (Ensembl:ENST00000526673) - c.85A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs747427021 | 30 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341161C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341161C>T Locations: - p.Glu30Lys (Ensembl:ENST00000526673) - c.88G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs780500729 | 31 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000011.10:g.16341156C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341156C>G Locations: - p.Glu31Asp (Ensembl:ENST00000526673) - c.93G>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1856619450 | 33 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.16341151C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341151C>A Locations: - p.Ser33Ile (Ensembl:ENST00000526673) - c.98G>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs758625287 | 33 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341152T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341152T>G Locations: - p.Ser33Arg (Ensembl:ENST00000526673) - c.97A>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1856619303 | 33 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341150A>T Codon: AGT/AGA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341150A>T Locations: - p.Ser33Arg (Ensembl:ENST00000526673) - c.99T>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1401454908 | 34 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341148T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341148T>A Locations: - p.Asp34Val (Ensembl:ENST00000526673) - c.101A>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1300904218 | 34 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341149C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341149C>A Locations: - p.Asp34Tyr (Ensembl:ENST00000526673) - c.100G>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1245969028 | 35 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000011.10:g.16341144T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341144T>A Locations: - p.Gln35His (Ensembl:ENST00000526673) - c.105A>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs750103733 | 36 | H>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341142T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341142T>G Locations: - p.His36Pro (Ensembl:ENST00000526673) - c.107A>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs778595229 | 36 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.16341141A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341141A>T Locations: - p.His36Gln (Ensembl:ENST00000526673) - c.108T>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1856618545 | 36 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.16341143G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341143G>A Locations: - p.His36Tyr (Ensembl:ENST00000526673) - c.106C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1856618089 | 37 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.16341139A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341139A>C Locations: - p.Val37Gly (Ensembl:ENST00000526673) - c.110T>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1856617788 | 38 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.16341136G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341136G>A Locations: - p.Ala38Val (Ensembl:ENST00000526673) - c.113C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs753386017 | 41 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341128G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341128G>C Locations: - p.Leu41Val (Ensembl:ENST00000526673) - c.121C>G (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs954000213 | 42 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341124G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341124G>A Locations: - p.Pro42Leu (Ensembl:ENST00000526673) - c.125C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
RCV002019291 rs763570958 | 44 | H>Q | Likely pathogenic (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.689) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341117G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341117G>C Locations: - p.His44Gln (Ensembl:ENST00000526673) - c.132C>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs760680996 | 45 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.16341115G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341115G>C Locations: - p.Pro45Arg (Ensembl:ENST00000526673) - c.134C>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1422174415 | 45 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000011.10:g.16341116G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341116G>A Locations: - p.Pro45Ser (Ensembl:ENST00000526673) - c.133C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1211550835 | 46 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.16341111T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341111T>C Locations: - p.Ile46Met (Ensembl:ENST00000526673) - c.138A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57045718 COSV57046945 rs1856616572 | 46 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16341112A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341112A>G Locations: - p.I46T (NCI-TCGA:ENST00000526673) - p.Ile46Thr (Ensembl:ENST00000526673) - c.137T>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1426861637 | 47 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341109A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341109A>C Locations: - p.Met47Arg (Ensembl:ENST00000526673) - c.140T>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57054005 rs747618977 | 48 | H>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16341107G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341107G>T Locations: - p.His48Asn (Ensembl:ENST00000526673) - c.142C>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs377656957 | 48 | H>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341105G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341105G>C Locations: - p.His48Gln (Ensembl:ENST00000526673) - c.144C>G (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1590139803 | 48 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341106T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341106T>C Locations: - p.His48Arg (Ensembl:ENST00000526673) - c.143A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs747618977 | 48 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341107G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341107G>A Locations: - p.His48Tyr (Ensembl:ENST00000526673) - c.142C>T (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1213699040 | 51 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341097G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341097G>T Locations: - p.Pro51His (Ensembl:ENST00000526673) - c.152C>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1213699040 | 51 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341097G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341097G>C Locations: - p.Pro51Arg (Ensembl:ENST00000526673) - c.152C>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1856615633 | 51 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.16341098G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341098G>A Locations: - p.Pro51Ser (Ensembl:ENST00000526673) - c.151C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs780697110 | 52 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.16341093G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341093G>T Locations: - p.His52Gln (Ensembl:ENST00000526673) - c.156C>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV105882009 rs762108403 | 53 | S>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16341091G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341091G>A Locations: - p.Ser53Phe (Ensembl:ENST00000526673) - c.158C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1015236118 | 53 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000011.10:g.16341092A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341092A>G Locations: - p.Ser53Pro (Ensembl:ENST00000526673) - c.157T>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1856614485 | 58 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000011.10:g.16341077T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341077T>C Locations: - p.Thr58Ala (Ensembl:ENST00000526673) - c.172A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1736109740 | 59 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341074G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341074G>A Locations: - p.Leu59Phe (Ensembl:ENST00000526673) - c.175C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs775803888 | 61 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.16341068T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341068T>C Locations: - p.Ser61Gly (Ensembl:ENST00000526673) - c.181A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs772618980 | 61 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000011.10:g.16341067C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341067C>T Locations: - p.Ser61Asn (Ensembl:ENST00000526673) - c.182G>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs772618980 | 61 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000011.10:g.16341067C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341067C>G Locations: - p.Ser61Thr (Ensembl:ENST00000526673) - c.182G>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1337316371 | 62 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000011.10:g.16341064G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341064G>C Locations: - p.Thr62Ser (Ensembl:ENST00000526673) - c.185C>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1254784276 | 63 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000011.10:g.16341062T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341062T>C Locations: - p.Ile63Val (Ensembl:ENST00000526673) - c.187A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs779217055 | 65 | Q>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341055T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341055T>C Locations: - p.Gln65Arg (Ensembl:ENST00000526673) - c.194A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1393852817 | 66 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341052T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341052T>G Locations: - p.Asp66Ala (Ensembl:ENST00000526673) - c.197A>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs756950448 | 66 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.16341051A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341051A>T Locations: - p.Asp66Glu (Ensembl:ENST00000526673) - c.198T>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1393852817 | 66 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341052T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341052T>C Locations: - p.Asp66Gly (Ensembl:ENST00000526673) - c.197A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57054208 rs1429383535 | 68 | D>G | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16341046T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341046T>C Locations: - p.Asp68Gly (Ensembl:ENST00000526673) - c.203A>G (Ensembl:ENST00000526673) Source type: large scale study | |||||||
RCV002160931 rs142511858 | 68 | D>N | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000011.10:g.16341047C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341047C>T Locations: - p.Asp68Asn (Ensembl:ENST00000526673) - c.202G>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1429383535 | 68 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341046T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341046T>A Locations: - p.Asp68Val (Ensembl:ENST00000526673) - c.203A>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1184956297 | 69 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341042C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341042C>A Locations: - p.Trp69Cys (Ensembl:ENST00000526673) - c.207G>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1419119805 | 69 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341044A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341044A>G Locations: - p.Trp69Arg (Ensembl:ENST00000526673) - c.205T>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs777292893 | 71 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341038T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341038T>A Locations: - p.Ser71Cys (Ensembl:ENST00000526673) - c.211A>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1243813876 | 71 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000011.10:g.16341037C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341037C>T Locations: - p.Ser71Asn (Ensembl:ENST00000526673) - c.212G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs777292893 | 71 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341038T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341038T>G Locations: - p.Ser71Arg (Ensembl:ENST00000526673) - c.211A>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs746454984 | 71 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341036G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341036G>C Locations: - p.Ser71Arg (Ensembl:ENST00000526673) - c.213C>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57055632 rs377228366 | 72 | V>I | Likely benign (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Accession: NC_000011.10:g.16341035C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341035C>T Locations: - p.Val72Ile (Ensembl:ENST00000526673) - c.214G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1205696272 | 78 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341017T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341017T>C Locations: - p.Arg78Gly (Ensembl:ENST00000526673) - c.232A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs767424590 | 78 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.278) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16341016C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16341016C>T Locations: - p.Arg78Lys (Ensembl:ENST00000526673) - c.233G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs572923031 | 80 | E>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000011.10:g.16318651T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318651T>G Locations: - p.Glu80Asp (Ensembl:ENST00000526673) - c.240A>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
RCV001251202 rs1855823129 | 81 | S>* | Tolchin-Le Caignec syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.16318649G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318649G>C Locations: - p.Ser81Ter (Ensembl:ENST00000526673) - c.242C>G (Ensembl:ENST00000526673) Disease association: - Tolchin-Le Caignec syndrome Source type: large scale study | |||||||
rs1855823042 | 82 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318647C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318647C>G Locations: - p.Glu82Gln (Ensembl:ENST00000526673) - c.244G>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1230106488 | 83 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318643T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318643T>A Locations: - p.Asn83Ile (Ensembl:ENST00000526673) - c.248A>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs369292252 | 87 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.16318632A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318632A>G Locations: - p.Cys87Arg (Ensembl:ENST00000526673) - c.259T>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs777228207 | 89 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318625A>T Codon: CTA/CAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318625A>T Locations: - p.Leu89Gln (Ensembl:ENST00000526673) - c.266T>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1372417027 | 90 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.16318621_16318622insC Codon: TAT/TAGT Consequence type: stop gained Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318621_16318622insC Locations: - p.Tyr90Ter (Ensembl:ENST00000526673) - c.269_270insG (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1391889804 | 90 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318622T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318622T>C Locations: - p.Tyr90Cys (Ensembl:ENST00000526673) - c.269A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1391889804 | 90 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318622T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318622T>A Locations: - p.Tyr90Phe (Ensembl:ENST00000526673) - c.269A>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs747655776 | 92 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.16318617A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318617A>G Locations: - p.Phe92Leu (Ensembl:ENST00000526673) - c.274T>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1191681677 | 92 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318616A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318616A>T Locations: - p.Phe92Tyr (Ensembl:ENST00000526673) - c.275T>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57053888 RCV001726837 RCV003883181 rs376018780 | 93 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Tolchin-Le Caignec syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000011.10:g.16318614G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318614G>A Locations: - p.R93* (NCI-TCGA:ENST00000526673) - p.Arg93Ter (Ensembl:ENST00000526673) - c.277C>T (Ensembl:ENST00000526673) Disease association: - Tolchin-Le Caignec syndrome Source type: large scale study | |||||||
COSV57054947 COSV57058914 rs148119560 | 93 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007965 (gnomAD) Accession: NC_000011.10:g.16318613C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318613C>T Locations: - p.R93Q (NCI-TCGA:ENST00000526673) - p.Arg93Gln (Ensembl:ENST00000526673) - c.278G>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs751505662 | 95 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318607G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318607G>A Locations: - p.Thr95Ile (Ensembl:ENST00000526673) - c.284C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1160558417 | 97 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318602T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318602T>C Locations: - p.Thr97Ala (Ensembl:ENST00000526673) - c.289A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57036174 rs1855820959 | 97 | T>I | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16318601G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318601G>A Locations: - p.Thr97Ile (Ensembl:ENST00000526673) - c.290C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
RCV001374999 rs2134302287 | 98 | S>* | Neurodevelopmental disorder (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.16318598G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318598G>C Locations: - p.Ser98Ter (Ensembl:ENST00000526673) - c.293C>G (Ensembl:ENST00000526673) Disease association: - Neurodevelopmental disorder Source type: large scale study | |||||||
rs1195061651 | 99 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318596G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318596G>C Locations: - p.Pro99Ala (Ensembl:ENST00000526673) - c.295C>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs2134302265 | 100 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318592T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318592T>C Locations: - p.His100Arg (Ensembl:ENST00000526673) - c.299A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs758212022 | 101 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318588C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318588C>G Locations: - p.Lys101Asn (Ensembl:ENST00000526673) - c.303G>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs750229887 | 102 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.16318586G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318586G>A Locations: - p.Pro102Leu (Ensembl:ENST00000526673) - c.305C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1855820672 | 102 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.479) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.16318587G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318587G>T Locations: - p.Pro102Thr (Ensembl:ENST00000526673) - c.304C>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs200123857 | 103 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000011.10:g.16318582G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318582G>T Locations: - p.Asp103Glu (Ensembl:ENST00000526673) - c.309C>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs760918989 | 103 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318584C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318584C>T Locations: - p.Asp103Asn (Ensembl:ENST00000526673) - c.307G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1261953153 | 104 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318580T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318580T>C Locations: - p.Glu104Gly (Ensembl:ENST00000526673) - c.311A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57048270 rs545452739 | 104 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16318581C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318581C>T Locations: - p.Glu104Lys (Ensembl:ENST00000526673) - c.310G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV106472310 rs760064805 | 107 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007963 (gnomAD) Accession: NC_000011.10:g.16318572G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318572G>A Locations: - p.R107W (NCI-TCGA:ENST00000526673) - p.Arg107Trp (Ensembl:ENST00000526673) - c.319C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1166834483 | 109 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318566G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318566G>A Locations: - p.Arg109Cys (Ensembl:ENST00000526673) - c.325C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57039221 rs774770291 | 109 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003582 (gnomAD) Accession: NC_000011.10:g.16318565C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318565C>T Locations: - p.R109H (NCI-TCGA:ENST00000526673) - p.Arg109His (Ensembl:ENST00000526673) - c.326G>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs771293960 | 111 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.16318559A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318559A>G Locations: - p.Ile111Thr (Ensembl:ENST00000526673) - c.332T>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV99074294 rs568879609 | 112 | M>T | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000011.10:g.16318556A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318556A>G Locations: - p.Met112Thr (Ensembl:ENST00000526673) - c.335T>C (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1345848179 | 114 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000011.10:g.16318551T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318551T>C Locations: - p.Ser114Gly (Ensembl:ENST00000526673) - c.340A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
COSV57035700 rs769385306 | 122 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000011.10:g.16318527G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318527G>A Locations: - p.R122C (NCI-TCGA:ENST00000526673) - p.Arg122Cys (Ensembl:ENST00000526673) - c.364C>T (Ensembl:ENST00000526673) Source type: large scale study | |||||||
COSV57035758 rs747791112 | 122 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000796 (gnomAD) Accession: NC_000011.10:g.16318526C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318526C>T Locations: - p.R122H (NCI-TCGA:ENST00000526673) - p.Arg122His (Ensembl:ENST00000526673) - c.365G>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
COSV57036839 rs991354761 | 123 | R>H | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.16318523C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318523C>T Locations: - p.Arg123His (Ensembl:ENST00000526673) - c.368G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs373465390 | 124 | K>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.16318520T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318520T>C Locations: - p.Lys124Arg (Ensembl:ENST00000526673) - c.371A>G (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs768216845 | 125 | G>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318518C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318518C>A Locations: - p.Gly125Trp (Ensembl:ENST00000526673) - c.373G>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs750282958 | 129 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318504A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318504A>T Locations: - p.Asp129Glu (Ensembl:ENST00000526673) - c.387T>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs758406862 | 129 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318506C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318506C>G Locations: - p.Asp129His (Ensembl:ENST00000526673) - c.385G>C (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs758406862 | 129 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318506C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318506C>T Locations: - p.Asp129Asn (Ensembl:ENST00000526673) - c.385G>A (Ensembl:ENST00000526673) Source type: large scale study | |||||||
rs1248138259 | 132 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318497C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318497C>T Locations: - p.Asp132Asn (Ensembl:ENST00000526673) - c.394G>A (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1263269835 | 133 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.616) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.16318494T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318494T>C Locations: - p.Thr133Ala (Ensembl:ENST00000526673) - c.397A>G (Ensembl:ENST00000526673) Source type: large scale study Cross-references: | |||||||
rs1217600087 | 133 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.16318493G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11p15.2 Genomic location: NC_000011.10:g.16318493G>A Locations: - p.Thr133Ile (Ensembl:ENST00000526673) - c.398C>T (Ensembl:ENST00000526673) Source type: large scale study Cross-references: |