H0YFI1 · H0YFI1_HUMAN
- ProteinRagulator complex protein LAMTOR1
- GeneLAMTOR1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1485220453 | 2 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.72099256C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099256C>T Locations: - p.Asp2Asn (Ensembl:ENST00000544594) - c.4G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs747421120 | 3 | R>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.72099253G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099253G>A Locations: - p.Arg3Ter (Ensembl:ENST00000544594) - c.7C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs778179316 | 3 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000011.10:g.72099252C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099252C>T Locations: - p.Arg3Gln (Ensembl:ENST00000544594) - c.8G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs139698091 | 6 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.72099243C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099243C>T Locations: - p.Arg6Gln (Ensembl:ENST00000544594) - c.17G>A (Ensembl:ENST00000544594) Source type: large scale study | |||||||
COSV53826789 rs1470988828 | 6 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000011.10:g.72099244G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099244G>A Locations: - p.R6W (NCI-TCGA:ENST00000544594) - p.Arg6Trp (Ensembl:ENST00000544594) - c.16C>T (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs1591176782 | 11 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.72099228T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099228T>G Locations: - p.Asp11Ala (Ensembl:ENST00000544594) - c.32A>C (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1591176782 | 11 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72099228T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099228T>C Locations: - p.Asp11Gly (Ensembl:ENST00000544594) - c.32A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1945348668 | 12 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72099225G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099225G>C Locations: - p.Pro12Arg (Ensembl:ENST00000544594) - c.35C>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs151193517 | 12 | P>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.72099226G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099226G>A Locations: - p.Pro12Ser (Ensembl:ENST00000544594) - c.34C>T (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs1372531306 | 13 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000011.10:g.72099222C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099222C>T Locations: - p.Ser13Asn (Ensembl:ENST00000544594) - c.38G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1217041295 | 14 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.72099220T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099220T>C Locations: - p.Ser14Gly (Ensembl:ENST00000544594) - c.40A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1945348097 | 15 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.614) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72099216G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099216G>T Locations: - p.Pro15His (Ensembl:ENST00000544594) - c.44C>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1451385187 | 15 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.72099217G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099217G>A Locations: - p.Pro15Ser (Ensembl:ENST00000544594) - c.43C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs142245358 | 16 | P>A | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.72099214G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099214G>C Locations: - p.Pro16Ala (Ensembl:ENST00000544594) - c.46C>G (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs142245358 | 16 | P>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.72099214G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099214G>T Locations: - p.Pro16Thr (Ensembl:ENST00000544594) - c.46C>A (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs1591176736 | 17 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72099211T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099211T>G Locations: - p.Thr17Pro (Ensembl:ENST00000544594) - c.49A>C (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1315153304 | 19 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000011.10:g.72099205C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099205C>T Locations: - p.Ala19Thr (Ensembl:ENST00000544594) - c.55G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1226934880 | 19 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000011.10:g.72099204G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099204G>A Locations: - p.Ala19Val (Ensembl:ENST00000544594) - c.56C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs758275911 | 20 | L>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000011.10:g.72099202G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099202G>C Locations: - p.Leu20Val (Ensembl:ENST00000544594) - c.58C>G (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs953585735 | 21 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.72099198T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099198T>C Locations: - p.Asn21Ser (Ensembl:ENST00000544594) - c.62A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1431265156 | 23 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000011.10:g.72099193C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099193C>A Locations: - p.Ala23Ser (Ensembl:ENST00000544594) - c.67G>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
COSV99194367 rs144101476 | 24 | E>K | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000011.10:g.72099190C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099190C>T Locations: - p.Glu24Lys (Ensembl:ENST00000544594) - c.70G>A (Ensembl:ENST00000544594) Source type: large scale study | |||||||
COSV53825240 rs201626525 | 26 | N>I | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000011.10:g.72099183T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099183T>A Locations: - p.Asn26Ile (Ensembl:ENST00000544594) - c.77A>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs201626525 | 26 | N>S | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000011.10:g.72099183T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099183T>C Locations: - p.Asn26Ser (Ensembl:ENST00000544594) - c.77A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1380983335 | 26 | N>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.72099184T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099184T>A Locations: - p.Asn26Tyr (Ensembl:ENST00000544594) - c.76A>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs747033462 | 27 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.683) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.72099180T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099180T>C Locations: - p.Tyr27Cys (Ensembl:ENST00000544594) - c.80A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs766185001 | 29 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.72099175T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099175T>C Locations: - p.Ser29Gly (Ensembl:ENST00000544594) - c.85A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs760392879 | 30 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000011.10:g.72099172G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099172G>C Locations: - p.Leu30Val (Ensembl:ENST00000544594) - c.88C>G (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs773514977 | 31 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72099168G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099168G>A Locations: - p.Pro31Leu (Ensembl:ENST00000544594) - c.92C>T (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs564426310 | 33 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000011.10:g.72099163C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099163C>T Locations: - p.A33T (NCI-TCGA:ENST00000544594) - p.Ala33Thr (Ensembl:ENST00000544594) - c.97G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs774872628 | 34 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.523) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72099160G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099160G>A Locations: - p.Arg34Cys (Ensembl:ENST00000544594) - c.100C>T (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs768750455 | 34 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000003984 (gnomAD) Accession: NC_000011.10:g.72099159C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099159C>T Locations: - p.R34H (NCI-TCGA:ENST00000544594) - p.Arg34His (Ensembl:ENST00000544594) - c.101G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs768750455 | 34 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72099159C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099159C>G Locations: - p.Arg34Pro (Ensembl:ENST00000544594) - c.101G>C (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs1225106521 | 36 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099154C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099154C>A Locations: - p.Asp36Tyr (Ensembl:ENST00000544594) - c.106G>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1490656675 | 39 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.72099144G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099144G>T Locations: - p.Ala39Asp (Ensembl:ENST00000544594) - c.116C>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1490656675 | 39 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099144G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099144G>C Locations: - p.Ala39Gly (Ensembl:ENST00000544594) - c.116C>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1014236431 | 39 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000011.10:g.72099145C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099145C>A Locations: - p.Ala39Ser (Ensembl:ENST00000544594) - c.115G>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1591176573 | 41 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099139G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099139G>A Locations: - p.Leu41Phe (Ensembl:ENST00000544594) - c.121C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1393512692 | 43 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099132G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099132G>C Locations: - p.Ser43Cys (Ensembl:ENST00000544594) - c.128C>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs780083209 | 48 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72099118T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099118T>C Locations: - p.Thr48Ala (Ensembl:ENST00000544594) - c.142A>G (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs913019776 | 51 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.616) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.72098856T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098856T>C Locations: - p.Asn51Ser (Ensembl:ENST00000544594) - c.152A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1178822050 | 52 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098852G>C Codon: TCA/TGA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098852G>C Locations: - p.Ile52Met (Ensembl:ENST00000544594) - c.156C>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1470529384 | 53 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098849A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098849A>C Locations: - p.Ile53Met (Ensembl:ENST00000544594) - c.159T>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs76839502 | 53 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.72098850A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098850A>C Locations: - p.Ile53Ser (Ensembl:ENST00000544594) - c.158T>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs373473115 | 55 | V>M | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72098845C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098845C>T Locations: - p.Val55Met (Ensembl:ENST00000544594) - c.163G>A (Ensembl:ENST00000544594) Source type: large scale study | |||||||
rs1157336367 | 56 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098841G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098841G>C Locations: - p.Ser56Cys (Ensembl:ENST00000544594) - c.167C>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1421412498 | 57 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098838G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098838G>A Locations: - p.Ala57Val (Ensembl:ENST00000544594) - c.170C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1374700688 | 58 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098836C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098836C>G Locations: - p.Ala58Pro (Ensembl:ENST00000544594) - c.172G>C (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1177349917 | 58 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000011.10:g.72098835G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098835G>A Locations: - p.Ala58Val (Ensembl:ENST00000544594) - c.173C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1240945414 | 61 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.327) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72098827G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098827G>C Locations: - p.Gln61Glu (Ensembl:ENST00000544594) - c.181C>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs2135155769 | 61 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098826T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098826T>C Locations: - p.Gln61Arg (Ensembl:ENST00000544594) - c.182A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1399254404 | 62 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.72098824C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098824C>T Locations: - p.Gly62Ser (Ensembl:ENST00000544594) - c.184G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1323759439 | 63 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098820A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098820A>G Locations: - p.Met63Thr (Ensembl:ENST00000544594) - c.188T>C (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1410023307 | 63 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.72098821T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098821T>C Locations: - p.Met63Val (Ensembl:ENST00000544594) - c.187A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1945330928 | 66 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.72098810A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098810A>T Locations: - p.His66Gln (Ensembl:ENST00000544594) - c.198T>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1267268081 | 66 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.72098811T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098811T>C Locations: - p.His66Arg (Ensembl:ENST00000544594) - c.197A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
COSV53826340 rs1945331119 | 66 | H>Y | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.72098812G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098812G>A Locations: - p.His66Tyr (Ensembl:ENST00000544594) - c.196C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1318727092 | 69 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.72098803T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098803T>C Locations: - p.Met69Val (Ensembl:ENST00000544594) - c.205A>G (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1307598395 | 71 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098797G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098797G>A Locations: - p.Arg71Cys (Ensembl:ENST00000544594) - c.211C>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
COSV53825572 rs370533903 | 71 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000006472 (gnomAD) Accession: NC_000011.10:g.72098796C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098796C>T Locations: - p.R71H (NCI-TCGA:ENST00000544594) - p.Arg71His (Ensembl:ENST00000544594) - c.212G>A (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
VAR_030250 rs1053443 | 73 | S>L | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.72098829G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098829G>A Locations: - p.Ser73Leu (UniProt:Q6IAA8) - p.Ser60Leu (Ensembl:ENST00000544594) - c.179C>T (Ensembl:ENST00000544594) Source type: mixed | |||||||
rs1380633807 | 73 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.666) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098789C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098789C>A Locations: - p.Arg73Ser (Ensembl:ENST00000544594) - c.219G>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs1945330190 | 76 | R>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098782T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098782T>A Locations: - p.Arg76Trp (Ensembl:ENST00000544594) - c.226A>T (Ensembl:ENST00000544594) Source type: large scale study Cross-references: | |||||||
rs184909354 | 77 | S>P | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72097913A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097913A>G Locations: - p.Ser77Pro (Ensembl:ENST00000544594) - c.229T>C (Ensembl:ENST00000544594) Source type: large scale study Cross-references: |