I3L0W7 · I3L0W7_HUMAN
- ProteinZinc finger protein 750
- GeneZNF750
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids324 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV53962149 COSV105034674 COSV53958769 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831255C>G, NC_000017.11:g.82831257T>G, NC_000017.11:g.82831255C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831255C>G, NC_000017.11:g.82831257T>G, NC_000017.11:g.82831255C>T Locations: - p.Met1? (cosmic curated:ENST00000572562) - c.3G>C (cosmic curated:ENST00000572562) - c.1A>C (cosmic curated:ENST00000572562) - c.3G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960782 | 6 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831241C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831241C>T Locations: - p.Gly6Glu (cosmic curated:ENST00000572562) - c.17G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV105034723 | 7 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831238C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831238C>T Locations: - p.Ser7Asn (cosmic curated:ENST00000572562) - c.20G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962639 rs756567361 | 10 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831229G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831229G>A Locations: - p.Thr10Met (cosmic curated:ENST00000572562) - c.29C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53958698 | 12 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831223G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831223G>A Locations: - p.Ser12Phe (cosmic curated:ENST00000572562) - c.35C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV105034670 | 14 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831216-82831217CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831216-82831217CC>TT Locations: - p.Gly14Glu (cosmic curated:ENST00000572562) - c.41_42delinsAA (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV105034663 rs974034003 | 16 | P>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831211G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831211G>A Locations: - p.Pro16Leu (cosmic curated:ENST00000572562) - c.47C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV99489838 | 17 | S>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831209T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831209T>G Locations: - p.Ser17Arg (cosmic curated:ENST00000572562) - c.49A>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489964 | 19 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831202G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831202G>A Locations: - p.T19I (NCI-TCGA:ENST00000572562) - p.Thr19Ile (cosmic curated:ENST00000572562) - c.56C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV106056019 | 29 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831173C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831173C>A Locations: - p.Glu29Ter (cosmic curated:ENST00000572562) - c.85G>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53963218 rs572349776 | 29 | E>K | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831173C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831173C>T Locations: - p.Glu29Lys (cosmic curated:ENST00000572562) - c.85G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV107200894 RCV000890260 RCV003968113 rs138391103 | 36 | N>K | ZNF750-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00699 (ClinVar) - MAF: 0.00706436 (1000Genomes) Accession: NC_000017.11:g.82831150G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831150G>C Locations: - p.Asn36Lys (cosmic curated:ENST00000572562) - c.108C>G (cosmic curated:ENST00000572562) Disease association: - ZNF750-related disorder Source type: large scale study | |||||||
COSV53959396 | 44 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831128C>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831128C>A Locations: - p.G44* (NCI-TCGA:ENST00000572562) - p.Gly44Ter (cosmic curated:ENST00000572562) - c.130G>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489508 | 45 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831125T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831125T>C Locations: - p.Arg45Gly (cosmic curated:ENST00000572562) - c.133A>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489848 | 45 | R>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831124C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831124C>G Locations: - p.Arg45Thr (cosmic curated:ENST00000572562) - c.134G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960854 COSV99489642 rs748944330 | 48 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831115G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831115G>A Locations: - p.P48L (NCI-TCGA:ENST00000572562) - p.Pro48Leu (cosmic curated:ENST00000572562) - c.143C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53960854 COSV99489642 | 48 | P>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831115G>T Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831115G>T Locations: - p.P48Q (NCI-TCGA:ENST00000572562) - p.Pro48Gln (cosmic curated:ENST00000572562) - c.143C>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489545 | 56 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831092A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831092A>G Locations: - p.Phe56Leu (cosmic curated:ENST00000572562) - c.166T>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV107199375 rs144851291 | 63 | T>I | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000017.11:g.82831070G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831070G>A Locations: - p.Thr63Ile (cosmic curated:ENST00000572562) - c.188C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV99489772 | 64 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831068C>G Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82831068C>G Locations: - p.E64Q (NCI-TCGA:ENST00000572562) - p.Glu64Gln (cosmic curated:ENST00000572562) - c.190G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960989 | 67 | P>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831059G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831059G>C Locations: - p.Pro67Ala (cosmic curated:ENST00000572562) - c.199C>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV105034728 | 67 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82831059G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82831059G>A Locations: - p.Pro67Ser (cosmic curated:ENST00000572562) - c.199C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959345 rs762115687 | 86 | G>R | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830861C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830861C>T Locations: - p.Gly86Arg (cosmic curated:ENST00000572562) - c.256G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489915 | 89 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830852G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830852G>A Locations: - p.Pro89Ser (cosmic curated:ENST00000572562) - c.265C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53958586 | 93 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830839C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830839C>T Locations: - p.Gly93Glu (cosmic curated:ENST00000572562) - c.278G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960413 rs377519504 | 95 | A>T | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830834C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830834C>T Locations: - p.Ala95Thr (cosmic curated:ENST00000572562) - c.283G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962987 | 96 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830830G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830830G>A Locations: - p.S96F (NCI-TCGA:ENST00000572562) - p.Ser96Phe (cosmic curated:ENST00000572562) - c.287C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99052668 | 97 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830828G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830828G>A Locations: - p.Leu97Phe (cosmic curated:ENST00000572562) - c.289C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489619 rs1475213229 | 99 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000004038 (gnomAD) Accession: NC_000017.11:g.82830821G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830821G>A Locations: - p.S99L (NCI-TCGA:ENST00000572562) - p.Ser99Leu (cosmic curated:ENST00000572562) - c.296C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV104588761 | 100 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830819-82830820CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830819-82830820CC>TT Locations: - p.Glu100Lys (cosmic curated:ENST00000572562) - c.297_298delinsAA (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV105835544 rs1472455890 | 102 | A>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830813C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830813C>T Locations: - p.Ala102Thr (cosmic curated:ENST00000572562) - c.304G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53958190 | 102 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830812G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830812G>A Locations: - p.A102V (NCI-TCGA:ENST00000572562) - p.Ala102Val (cosmic curated:ENST00000572562) - c.305C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53958873 | 104 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830806G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830806G>C Locations: - p.Ser104Cys (cosmic curated:ENST00000572562) - c.311C>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959112 | 108 | D>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830794T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830794T>G Locations: - p.Asp108Ala (cosmic curated:ENST00000572562) - c.323A>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960756 rs769210534 | 108 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00004819 (gnomAD) Accession: NC_000017.11:g.82830795C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830795C>T Locations: - p.D108N (NCI-TCGA:ENST00000572562) - p.Asp108Asn (cosmic curated:ENST00000572562) - c.322G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV108069091 | 113 | G>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830779C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830779C>G Locations: - p.Gly113Ala (cosmic curated:ENST00000572562) - c.338G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959407 | 114 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830777G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830777G>A Locations: - p.Pro114Ser (cosmic curated:ENST00000572562) - c.340C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV106385907 | 118 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830764G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830764G>A Locations: - p.Ser118Phe (cosmic curated:ENST00000572562) - c.353C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960289 | 122 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830753C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830753C>T Locations: - p.Glu122Lys (cosmic curated:ENST00000572562) - c.364G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962538 | 126 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830741C>T Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830741C>T Locations: - p.A126T (NCI-TCGA:ENST00000572562) - p.Ala126Thr (cosmic curated:ENST00000572562) - c.376G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960093 rs766066825 | 130 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000017.11:g.82830729C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830729C>T Locations: - p.E130K (NCI-TCGA:ENST00000572562) - p.Glu130Lys (cosmic curated:ENST00000572562) - c.388G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53961012 rs1304694131 | 132 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000017.11:g.82830722G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830722G>A Locations: - p.T132M (NCI-TCGA:ENST00000572562) - p.Thr132Met (cosmic curated:ENST00000572562) - c.395C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53959594 | 142 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830693C>T Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830693C>T Locations: - p.A142T (NCI-TCGA:ENST00000572562) - p.Ala142Thr (cosmic curated:ENST00000572562) - c.424G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960527 | 145 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830683G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830683G>A Locations: - p.S145L (NCI-TCGA:ENST00000572562) - p.Ser145Leu (cosmic curated:ENST00000572562) - c.434C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962998 | 152 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830662A>C Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830662A>C Locations: - p.L152R (NCI-TCGA:ENST00000572562) - p.Leu152Arg (cosmic curated:ENST00000572562) - c.455T>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53958516 | 154 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830657G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830657G>T Locations: - p.Leu154Ile (cosmic curated:ENST00000572562) - c.460C>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53963174 | 155 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830653G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830653G>A Locations: - p.Ser155Leu (cosmic curated:ENST00000572562) - c.464C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV107199086 rs747857500 | 158 | D>N | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830645C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830645C>T Locations: - p.Asp158Asn (cosmic curated:ENST00000572562) - c.472G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53962659 rs145441025 | 165 | P>L | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830623G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830623G>A Locations: - p.Pro165Leu (cosmic curated:ENST00000572562) - c.494C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV105034730 | 167 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830618G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830618G>T Locations: - p.Pro167Thr (cosmic curated:ENST00000572562) - c.499C>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV108069095 | 171 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830605C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830605C>T Locations: - p.Gly171Asp (cosmic curated:ENST00000572562) - c.512G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960127 rs536499326 | 171 | G>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830606C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830606C>T Locations: - p.Gly171Ser (cosmic curated:ENST00000572562) - c.511G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962528 | 172 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830603G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830603G>A Locations: - p.Arg172Ter (cosmic curated:ENST00000572562) - c.514C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961801 rs1027990090 | 172 | R>G | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830603G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830603G>C Locations: - p.Arg172Gly (cosmic curated:ENST00000572562) - c.514C>G (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53960904 rs768704098 | 172 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830602C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830602C>T Locations: - p.Arg172Gln (cosmic curated:ENST00000572562) - c.515G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961811 | 174 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830597G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830597G>A Locations: - p.R174* (NCI-TCGA:ENST00000572562) - p.Arg174Ter (cosmic curated:ENST00000572562) - c.520C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53963186 | 180 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830578G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830578G>A Locations: - p.A180V (NCI-TCGA:ENST00000572562) - p.Ala180Val (cosmic curated:ENST00000572562) - c.539C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV107200898 | 187 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830558C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830558C>T Locations: - p.Gly187Arg (cosmic curated:ENST00000572562) - c.559G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959066 | 191 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830545G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830545G>A Locations: - p.S191F (NCI-TCGA:ENST00000572562) - p.Ser191Phe (cosmic curated:ENST00000572562) - c.572C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959792 rs2053399509 | 192 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830543C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830543C>G Locations: - p.E192Q (NCI-TCGA:ENST00000572562) - p.Glu192Gln (cosmic curated:ENST00000572562) - c.574G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489975 | 196 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830530C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830530C>A Locations: - p.Ser196Ile (cosmic curated:ENST00000572562) - c.587G>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489770 rs762687130 | 207 | G>S | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830498C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830498C>T Locations: - p.Gly207Ser (cosmic curated:ENST00000572562) - c.619G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53961074 rs771099904 | 210 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.0001004 (gnomAD) Accession: NC_000017.11:g.82830489C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830489C>T Locations: - p.A210T (NCI-TCGA:ENST00000572562) - p.Ala210Thr (cosmic curated:ENST00000572562) - c.628G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53962400 rs2053391614 | 212 | P>H | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830482G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830482G>T Locations: - p.Pro212His (cosmic curated:ENST00000572562) - c.635C>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961473 | 212 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830482G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830482G>A Locations: - p.Pro212Leu (cosmic curated:ENST00000572562) - c.635C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960324 rs372202694 | 216 | G>C | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830471C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830471C>A Locations: - p.Gly216Cys (cosmic curated:ENST00000572562) - c.646G>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960324 COSV99489678 rs372202694 | 216 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000008063 (gnomAD) Accession: NC_000017.11:g.82830471C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830471C>T Locations: - p.G216S (NCI-TCGA:ENST00000572562) - p.Gly216Ser (cosmic curated:ENST00000572562) - c.646G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53959569 rs374408281 | 217 | E>K | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830468C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830468C>T Locations: - p.Glu217Lys (cosmic curated:ENST00000572562) - c.649G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV107199100 | 220 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830458G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830458G>A Locations: - p.Pro220Leu (cosmic curated:ENST00000572562) - c.659C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959416 COSV53961042 | 224 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830446G>C Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830446G>C Locations: - p.A224G (NCI-TCGA:ENST00000572562) - p.Ala224Gly (cosmic curated:ENST00000572562) - c.671C>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961604 rs746485705 | 224 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000004028 (gnomAD) Accession: NC_000017.11:g.82830447C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830447C>T Locations: - p.A224T (NCI-TCGA:ENST00000572562) - p.Ala224Thr (cosmic curated:ENST00000572562) - c.670G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53961042 rs777328077 | 224 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830446G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830446G>A Locations: - p.Ala224Val (cosmic curated:ENST00000572562) - c.671C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV108069094 | 227 | S>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830438T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830438T>C Locations: - p.Ser227Gly (cosmic curated:ENST00000572562) - c.679A>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961029 rs780561279 | 228 | S>R | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830433G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830433G>T Locations: - p.Ser228Arg (cosmic curated:ENST00000572562) - c.684C>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961153 | 233 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830418C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830418C>G Locations: - p.Gln233His (cosmic curated:ENST00000572562) - c.699G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960032 | 235 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830414C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830414C>T Locations: - p.Ala235Thr (cosmic curated:ENST00000572562) - c.703G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960730 | 236 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830410G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830410G>A Locations: - p.Ala236Val (cosmic curated:ENST00000572562) - c.707C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53958277 rs757314791 | 237 | V>M | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830408C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830408C>T Locations: - p.Val237Met (cosmic curated:ENST00000572562) - c.709G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53962776 | 245 | Y>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830382G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830382G>C Locations: - p.Tyr245Ter (cosmic curated:ENST00000572562) - c.735C>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV105819913 | 248 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830373-82830374CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830373-82830374CC>TT Locations: - p.Arg248Lys (cosmic curated:ENST00000572562) - c.743_744delinsAA (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489857 rs772763914 | 251 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001197 (gnomAD) Accession: NC_000017.11:g.82830366G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830366G>A Locations: - p.R251W (NCI-TCGA:ENST00000572562) - p.Arg251Trp (cosmic curated:ENST00000572562) - c.751C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53963012 | 253 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830360C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830360C>A Locations: - p.Gly253Cys (cosmic curated:ENST00000572562) - c.757G>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960717 rs2053371629 | 254 | D>N | cosmic curated Ensembl | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830357C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830357C>T Locations: - p.Asp254Asn (cosmic curated:ENST00000572562) - c.760G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV107200494 | 255 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830353C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830353C>T Locations: - p.Gly255Glu (cosmic curated:ENST00000572562) - c.764G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489850 rs1404974378 | 255 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003984 (gnomAD) Accession: NC_000017.11:g.82830354C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830354C>T Locations: - p.G255R (NCI-TCGA:ENST00000572562) - p.Gly255Arg (cosmic curated:ENST00000572562) - c.763G>A (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53960005 | 256 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830350T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830350T>C Locations: - p.Asp256Gly (cosmic curated:ENST00000572562) - c.767A>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489948 | 256 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830351C>T Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830351C>T Locations: - p.D256N (NCI-TCGA:ENST00000572562) - p.Asp256Asn (cosmic curated:ENST00000572562) - c.766G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489960 | 258 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830344G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830344G>A Locations: - p.Ala258Val (cosmic curated:ENST00000572562) - c.773C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960344 | 259 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830342-82830343CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830342-82830343CC>TT Locations: - p.Ala259Thr (cosmic curated:ENST00000572562) - c.774_775delinsAA (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53960062 rs747118542 | 260 | P>L | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830338G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830338G>A Locations: - p.Pro260Leu (cosmic curated:ENST00000572562) - c.779C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962411 | 264 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830326C>T Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830326C>T Locations: - p.C264Y (NCI-TCGA:ENST00000572562) - p.Cys264Tyr (cosmic curated:ENST00000572562) - c.791G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV104588768 | 265 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830323C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830323C>A Locations: - p.Arg265Leu (cosmic curated:ENST00000572562) - c.794G>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489493 | 266 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830321G>C Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830321G>C Locations: - p.Q266E (NCI-TCGA:ENST00000572562) - p.Gln266Glu (cosmic curated:ENST00000572562) - c.796C>G (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962016 rs140298019 | 274 | M>V | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830297T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830297T>C Locations: - p.Met274Val (cosmic curated:ENST00000572562) - c.820A>G (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53961743 | 287 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830257C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830257C>T Locations: - p.Gly287Glu (cosmic curated:ENST00000572562) - c.860G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959778 | 289 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830250C>G Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830250C>G Locations: - p.K289N (NCI-TCGA:ENST00000572562) - p.Lys289Asn (cosmic curated:ENST00000572562) - c.867G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961520 | 294 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830235C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830235C>A Locations: - p.Arg294Ser (cosmic curated:ENST00000572562) - c.882G>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961349 rs2053356182 | 295 | D>N | cosmic curated Ensembl | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830234C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830234C>T Locations: - p.Asp295Asn (cosmic curated:ENST00000572562) - c.883G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962279 | 302 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830212C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830212C>T Locations: - p.Gly302Glu (cosmic curated:ENST00000572562) - c.905G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959762 | 304 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830205C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830205C>G Locations: - p.Lys304Asn (cosmic curated:ENST00000572562) - c.912G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53959844 rs753642559 | 306 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830200G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830200G>A Locations: - p.A306V (NCI-TCGA:ENST00000572562) - p.Ala306Val (cosmic curated:ENST00000572562) - c.917C>T (cosmic curated:ENST00000572562) Source type: large scale study | |||||||
COSV53959225 rs370565250 | 310 | D>N | cosmic curated ESP TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830189C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830189C>T Locations: - p.Asp310Asn (cosmic curated:ENST00000572562) - c.928G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962941 | 312 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830183C>T Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830183C>T Locations: - p.A312T (NCI-TCGA:ENST00000572562) - p.Ala312Thr (cosmic curated:ENST00000572562) - c.934G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV99489810 | 318 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830165G>A Consequence type: missense Cytogenetic band: 17q25.3 Genomic location: NC_000017.11:g.82830165G>A Locations: - p.R318* (NCI-TCGA:ENST00000572562) - p.Arg318Ter (cosmic curated:ENST00000572562) - c.952C>T (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53962885 | 319 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830161C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830161C>T Locations: - p.Arg319Lys (cosmic curated:ENST00000572562) - c.956G>A (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: | |||||||
COSV53961214 | 320 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.82830157C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.82830157C>G Locations: - p.Arg320Ser (cosmic curated:ENST00000572562) - c.960G>C (cosmic curated:ENST00000572562) Source type: large scale study Cross-references: |