D6RIZ5 · D6RIZ5_HUMAN
- ProteinALF transcription elongation factor 1
- GeneAFF1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1470046315 | 2 | L>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.87046738T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046738T>A Locations: - p.Leu2Ter (Ensembl:ENST00000511442) - c.5T>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1730731763 | 2 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046739G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046739G>T Locations: - p.Leu2Phe (Ensembl:ENST00000511442) - c.6G>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1192247383 | 3 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000004.12:g.87046741G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046741G>A Locations: - p.G3E (NCI-TCGA:ENST00000511442) - p.Gly3Glu (Ensembl:ENST00000511442) - c.8G>A (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs775026525 | 5 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046746T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046746T>A Locations: - p.Tyr5Asn (Ensembl:ENST00000511442) - c.13T>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1356923618 | 6 | E>G | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046750A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046750A>G Locations: - p.Glu6Gly (Ensembl:ENST00000511442) - c.17A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
COSV57117752 rs772634363 | 6 | E>K | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.87046749G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046749G>A Locations: - p.Glu6Lys (Ensembl:ENST00000511442) - c.16G>A (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs772634363 | 6 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046749G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046749G>C Locations: - p.Glu6Gln (Ensembl:ENST00000511442) - c.16G>C (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs2149613874 | 7 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046752G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046752G>A Locations: - p.Glu7Lys (Ensembl:ENST00000511442) - c.19G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs760008798 | 8 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000004.12:g.87046755G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046755G>A Locations: - p.Val8Met (Ensembl:ENST00000511442) - c.22G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs772880545 | 9 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.87046759A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046759A>G Locations: - p.Lys9Arg (Ensembl:ENST00000511442) - c.26A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1333088976 | 10 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046761G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046761G>A Locations: - p.Glu10Lys (Ensembl:ENST00000511442) - c.28G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs773698577 | 11 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000004.12:g.87046766C>G, NC_000004.12:g.87046766C>A Codon: TTC/TTG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046766C>G, NC_000004.12:g.87046766C>A Locations: - p.Phe11Leu (Ensembl:ENST00000511442) - c.33C>G (Ensembl:ENST00000511442) - c.33C>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs761313603 | 13 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.87046771G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046771G>A Locations: - p.Ser13Asn (Ensembl:ENST00000511442) - c.38G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs761313603 | 13 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.87046771G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046771G>C Locations: - p.Ser13Thr (Ensembl:ENST00000511442) - c.38G>C (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs560535290 | 14 | T>I | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000004.12:g.87046774C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046774C>T Locations: - p.Thr14Ile (Ensembl:ENST00000511442) - c.41C>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs560535290 | 14 | T>S | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000004.12:g.87046774C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046774C>G Locations: - p.Thr14Ser (Ensembl:ENST00000511442) - c.41C>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs767961544 | 16 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046780C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046780C>G Locations: - p.Ser16Cys (Ensembl:ENST00000511442) - c.47C>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1730738424 | 19 | H>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.87046789A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046789A>T Locations: - p.His19Leu (Ensembl:ENST00000511442) - c.56A>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1156890768 | 19 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.87046788C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046788C>T Locations: - p.His19Tyr (Ensembl:ENST00000511442) - c.55C>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
COSV57123477 rs373948794 | 20 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000004.12:g.87046791C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046791C>T Locations: - p.Arg20Cys (Ensembl:ENST00000511442) - c.58C>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs373948794 | 20 | R>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000004.12:g.87046791C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046791C>G Locations: - p.Arg20Gly (Ensembl:ENST00000511442) - c.58C>G (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs368134000 | 20 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000004.12:g.87046792G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046792G>A Locations: - p.Arg20His (Ensembl:ENST00000511442) - c.59G>A (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs368134000 | 20 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000004.12:g.87046792G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046792G>T Locations: - p.Arg20Leu (Ensembl:ENST00000511442) - c.59G>T (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs113739604 | 21 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.87046795T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046795T>A Locations: - p.Leu21Gln (Ensembl:ENST00000511442) - c.62T>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1200961458 | 22 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.87046797G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046797G>A Locations: - p.Asp22Asn (Ensembl:ENST00000511442) - c.64G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1200961458 | 22 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046797G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046797G>T Locations: - p.Asp22Tyr (Ensembl:ENST00000511442) - c.64G>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs758611972 | 25 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.87046807A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046807A>G Locations: - p.Glu25Gly (Ensembl:ENST00000511442) - c.74A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
COSV57123131 rs2149614012 | 25 | E>K | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000004.12:g.87046806G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046806G>A Locations: - p.Glu25Lys (Ensembl:ENST00000511442) - c.73G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1730740414 | 26 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000004.12:g.87046809A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046809A>G Locations: - p.Asn26Asp (Ensembl:ENST00000511442) - c.76A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs2149614065 | 29 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046818G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046818G>A Locations: - p.Gly29Arg (Ensembl:ENST00000511442) - c.85G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1477121686 | 30 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.87046821A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046821A>G Locations: - p.Lys30Glu (Ensembl:ENST00000511442) - c.88A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs2149614089 | 30 | K>M | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.87046821_87046822insTGAAAAAAAACTAAGGAAAACTACCATTTAACAAACC Codon: AAG/ATGAAAAAAAACTAAGGAAAACTACCATTTAACAAACCAG Consequence type: stop gained Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046821_87046822insTGAAAAAAAACTAAGGAAAACTACCATTTAACAAACC Locations: - p.Lys30MetfsTer5 (Ensembl:ENST00000511442) - c.88_89insTGAAAAAAAACTAAGGAAAACTACCATTTAACAAACC (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs150508696 | 31 | P>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.87046825C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046825C>T Locations: - p.Pro31Leu (Ensembl:ENST00000511442) - c.92C>T (Ensembl:ENST00000511442) Source type: large scale study | |||||||
TCGA novel rs1730742647 | 31 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.87046824C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046824C>T Locations: - p.P31S (NCI-TCGA:ENST00000511442) - p.Pro31Ser (Ensembl:ENST00000511442) - c.91C>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1168743417 | 34 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.87046833C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046833C>G Locations: - p.Pro34Ala (Ensembl:ENST00000511442) - c.100C>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1168743417 | 34 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.87046833C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046833C>T Locations: - p.Pro34Ser (Ensembl:ENST00000511442) - c.100C>T (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
COSV57119761 rs201933604 | 35 | L>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.51) - SIFT: tolerated - low confidence (0.16) Somatic: Yes Accession: NC_000004.12:g.87046837T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046837T>C Locations: - p.Leu35Ser (Ensembl:ENST00000511442) - c.104T>C (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs769199371 | 37 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000004.12:g.87046842C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046842C>G Locations: - p.Pro37Ala (Ensembl:ENST00000511442) - c.109C>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs895284930 | 37 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000004.12:g.87046843C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046843C>A Locations: - p.Pro37His (Ensembl:ENST00000511442) - c.110C>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs927858462 | 38 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000004.12:g.87046847C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046847C>G Locations: - p.Asp38Glu (Ensembl:ENST00000511442) - c.114C>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs1351536529 | 38 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000004.12:g.87046845G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046845G>A Locations: - p.Asp38Asn (Ensembl:ENST00000511442) - c.112G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs748953806 | 39 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000004.12:g.87046848A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046848A>G Locations: - p.Lys39Glu (Ensembl:ENST00000511442) - c.115A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs371744589 | 39 | K>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000004.12:g.87046850A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046850A>T Locations: - p.Lys39Asn (Ensembl:ENST00000511442) - c.117A>T (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs1220117705 | 40 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000004.12:g.87046852G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046852G>A Locations: - p.Gly40Glu (Ensembl:ENST00000511442) - c.119G>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs773753569 | 42 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000004.12:g.87046858G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046858G>A Locations: - p.Ser42Asn (Ensembl:ENST00000511442) - c.125G>A (Ensembl:ENST00000511442) Source type: large scale study | |||||||
COSV100320874 rs761156221 | 43 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated - low confidence (0.33) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000004.12:g.87046860A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046860A>G Locations: - p.I43V (NCI-TCGA:ENST00000511442) - p.Ile43Val (Ensembl:ENST00000511442) - c.127A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs903883751 | 46 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.763) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.87046870G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046870G>C Locations: - p.Ser46Thr (Ensembl:ENST00000511442) - c.137G>C (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
COSV57125270 rs760018445 | 47 | S>F | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.87046873C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046873C>T Locations: - p.Ser47Phe (Ensembl:ENST00000511442) - c.140C>T (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs1730749895 | 49 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000004.12:g.87046878C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046878C>A Locations: - p.His49Asn (Ensembl:ENST00000511442) - c.145C>A (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs368326855 | 50 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000004.12:g.87046881A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046881A>G Locations: - p.Thr50Ala (Ensembl:ENST00000511442) - c.148A>G (Ensembl:ENST00000511442) Source type: large scale study | |||||||
rs564970030 | 51 | S>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000004.12:g.87046884A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046884A>G Locations: - p.Ser51Gly (Ensembl:ENST00000511442) - c.151A>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs909804909 | 51 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000004.12:g.87046886T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046886T>G Locations: - p.Ser51Arg (Ensembl:ENST00000511442) - c.153T>G (Ensembl:ENST00000511442) Source type: large scale study Cross-references: | |||||||
rs564970030 | 51 | S>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000004.12:g.87046884A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 4q21.3 Genomic location: NC_000004.12:g.87046884A>C Locations: - p.Ser51Arg (Ensembl:ENST00000511442) - c.151A>C (Ensembl:ENST00000511442) Source type: large scale study Cross-references: |