H3BNY9 · H3BNY9_HUMAN
- ProteinPhosphomannomutase
- GenePMM2
- 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 | ||
---|---|---|---|---|---|---|---|
RCV001915175 rs2141014078 | 2 | A>T | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.564) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.8797886G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797886G>A Locations: - p.Ala2Thr (Ensembl:ENST00000568602) - c.4G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs2060588254 | 2 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.8797887C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797887C>T Locations: - p.Ala2Val (Ensembl:ENST00000568602) - c.5C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs765628536 | 3 | A>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.8797890C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797890C>G Locations: - p.Ala3Gly (Ensembl:ENST00000568602) - c.8C>G (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs979244904 | 3 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.8797889G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797889G>C Locations: - p.Ala3Pro (Ensembl:ENST00000568602) - c.7G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs979244904 | 3 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.8797889G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797889G>A Locations: - p.Ala3Thr (Ensembl:ENST00000568602) - c.7G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs765628536 | 3 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.8797890C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797890C>T Locations: - p.Ala3Val (Ensembl:ENST00000568602) - c.8C>T (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs1350409007 | 4 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.8797892C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797892C>G Locations: - p.Pro4Ala (Ensembl:ENST00000568602) - c.10C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV001070757 rs773813007 | 5 | G>D | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8797896G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797896G>A Locations: - p.Gly5Asp (Ensembl:ENST00000568602) - c.14G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
rs1228679004 | 6 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.8797899C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797899C>T Locations: - p.Pro6Leu (Ensembl:ENST00000568602) - c.17C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1228679004 | 6 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.8797899C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797899C>A Locations: - p.Pro6Gln (Ensembl:ENST00000568602) - c.17C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs568038280 | 6 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000016.10:g.8797898C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797898C>T Locations: - p.Pro6Ser (Ensembl:ENST00000568602) - c.16C>T (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs766508576 | 7 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.8797901G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797901G>C Locations: - p.Ala7Pro (Ensembl:ENST00000568602) - c.19G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060588454 | 7 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000016.10:g.8797902C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797902C>T Locations: - p.Ala7Val (Ensembl:ENST00000568602) - c.20C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
CA16041792 RCV000410306 rs1057516943 | 9 | C>* | PMM2-congenital disorder of glycosylation (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.8797909C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797909C>A Locations: - p.Cys9Ter (Ensembl:ENST00000568602) - c.27C>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
rs104894532 | 9 | C>F | Pathogenic (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.8797908G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797908G>T Locations: - p.Cys9Phe (Ensembl:ENST00000568602) - c.26G>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
VAR_022469 CA254235 RCV000008159 rs104894532 | 9 | C>Y | CDG1A (UniProt) PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000016.10:g.8797908G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797908G>A Locations: - p.Cys9Tyr (UniProt:O15305) - p.Cys9Tyr (Ensembl:ENST00000568602) - c.26G>A (Ensembl:ENST00000568602) Disease association: - Congenital disorder of glycosylation 1A (CDG1A) - PMM2-congenital disorder of glycosylation Source type: mixed Cross-references: | |||||||
RCV001198787 rs1215262242 | 10 | L>F | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8797910C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797910C>T Locations: - p.Leu10Phe (Ensembl:ENST00000568602) - c.28C>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
rs1215262242 | 10 | L>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797910C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797910C>A Locations: - p.Leu10Ile (Ensembl:ENST00000568602) - c.28C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060588606 | 11 | F>V | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797913T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797913T>G Locations: - p.Phe11Val (Ensembl:ENST00000568602) - c.31T>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1418494813 | 12 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.8797918C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797918C>A Locations: - p.Asp12Glu (Ensembl:ENST00000568602) - c.36C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs755237333 | 12 | D>H | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797916G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797916G>C Locations: - p.Asp12His (Ensembl:ENST00000568602) - c.34G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs755237333 | 12 | D>N | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.8797916G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797916G>A Locations: - p.Asp12Asn (Ensembl:ENST00000568602) - c.34G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs755237333 | 12 | D>Y | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797916G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797916G>T Locations: - p.Asp12Tyr (Ensembl:ENST00000568602) - c.34G>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV002273654 RCV003096168 rs1473030550 | 14 | D>N | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000016.10:g.8797922G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797922G>A Locations: - p.Asp14Asn (Ensembl:ENST00000568602) - c.40G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
RCV000668655 rs958073558 | 15 | G>A | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8797926G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797926G>C Locations: - p.Gly15Ala (Ensembl:ENST00000568602) - c.44G>C (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
RCV000673598 RCV001536229 rs767831048 | 15 | G>R | PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8797925G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797925G>A Locations: - p.Gly15Arg (Ensembl:ENST00000568602) - c.43G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
RCV001785343 rs1162452555 | 16 | T>I | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797929C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797929C>T Locations: - p.Thr16Ile (Ensembl:ENST00000568602) - c.47C>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs1474067966 | 16 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797928A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797928A>T Locations: - p.Thr16Ser (Ensembl:ENST00000568602) - c.46A>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1217092307 | 17 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.8797931C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797931C>G Locations: - p.Leu17Val (Ensembl:ENST00000568602) - c.49C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV000822111 RCV002282385 rs757040733 | 18 | T>P | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8797934A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797934A>C Locations: - p.Thr18Pro (Ensembl:ENST00000568602) - c.52A>C (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
CA7893858 RCV000623763 RCV001221841 RCV001507340 rs760265100 | 18 | T>S | PMM2-congenital disorder of glycosylation (ClinVar) Inborn genetic diseases (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000016.10:g.8797935C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797935C>G Locations: - p.Thr18Ser (Ensembl:ENST00000568602) - c.53C>G (Ensembl:ENST00000568602) Disease association: - Inborn genetic diseases - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs750307011 | 19 | A>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.8797938C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797938C>A Locations: - p.Ala19Asp (Ensembl:ENST00000568602) - c.56C>A (Ensembl:ENST00000568602) Source type: large scale study | |||||||
RCV001038250 rs750307011 | 19 | A>V | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000016.10:g.8797938C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797938C>T Locations: - p.Ala19Val (Ensembl:ENST00000568602) - c.56C>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
RCV001036026 rs2060588870 | 20 | P>R | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797941C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797941C>G Locations: - p.Pro20Arg (Ensembl:ENST00000568602) - c.59C>G (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
VAR_022472 RCV000850396 RCV002265902 rs949271895 | 20 | P>S | CDG1A; reduction of activity (UniProt) PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (UniProt) | UniProt ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8797940C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797940C>T Locations: - p.Pro20Ser (UniProt:O15305) - p.Pro20Ser (Ensembl:ENST00000568602) - c.58C>T (Ensembl:ENST00000568602) Disease association: - Congenital disorder of glycosylation 1A (CDG1A) - PMM2-congenital disorder of glycosylation Source type: mixed Cross-references: | |||||||
RCV001702986 RCV003463060 rs758340382 | 21 | R>G | PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797943C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797943C>G Locations: - p.Arg21Gly (Ensembl:ENST00000568602) - c.61C>G (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
CA238583 RCV000173104 RCV000669624 RCV002516577 rs758340382 | 21 | R>W | PMM2-congenital disorder of glycosylation (ClinVar) Inborn genetic diseases (ClinVar) | Pathogenic (Ensembl) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.8797943C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797943C>T Locations: - p.Arg21Trp (Ensembl:ENST00000568602) - c.61C>T (Ensembl:ENST00000568602) Disease association: - Inborn genetic diseases - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs768168991 | 22 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8797948G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8797948G>C Locations: - p.Gln22His (Ensembl:ENST00000568602) - c.66G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060617948 | 23 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.8801799A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801799A>G Locations: - p.Lys23Glu (Ensembl:ENST00000568602) - c.67A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1392777674 | 24 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.288) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.8801802A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801802A>G Locations: - p.Ile24Val (Ensembl:ENST00000568602) - c.70A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1465226486 | 25 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.8801805A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801805A>G Locations: - p.Thr25Ala (Ensembl:ENST00000568602) - c.73A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1403917706 | 26 | K>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.8801808A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801808A>G Locations: - p.Lys26Glu (Ensembl:ENST00000568602) - c.76A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs747777230 | 27 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.8801811G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801811G>C Locations: - p.Glu27Gln (Ensembl:ENST00000568602) - c.79G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060618057 | 28 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.8801816G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801816G>A Locations: - p.Met28Ile (Ensembl:ENST00000568602) - c.84G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1320338683 | 28 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000016.10:g.8801814A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801814A>G Locations: - p.Met28Val (Ensembl:ENST00000568602) - c.82A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
CA7893883 RCV000340676 RCV000725737 RCV001081852 RCV003947907 rs201556985 | 30 | D>E | PMM2-congenital disorder of glycosylation (ClinVar) PMM2-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.79) Somatic: No Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000016.10:g.8801822C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801822C>G Locations: - p.Asp30Glu (Ensembl:ENST00000568602) - c.90C>G (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation - PMM2-related disorder Source type: large scale study | |||||||
COSV99191158 rs769336029 | 30 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.24) Somatic: Yes Population frequencies: - MAF: 0.00000808 (gnomAD) Accession: NC_000016.10:g.8801820G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801820G>A Locations: - p.D30N (NCI-TCGA:ENST00000568602) - p.Asp30Asn (Ensembl:ENST00000568602) - c.88G>A (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs61730638 | 31 | F>L | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.8801825C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801825C>A Locations: - p.Phe31Leu (Ensembl:ENST00000568602) - c.93C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
CA7893884 RCV000487831 RCV000675084 RCV000780613 rs749720760 | 31 | F>L | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00009 (ClinVar) Accession: NC_000016.10:g.8801823T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801823T>C Locations: - p.Phe31Leu (Ensembl:ENST00000568602) - c.91T>C (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
CA220630 RCV000169510 RCV000790826 RCV002514383 rs398123312 | 32 | L>R | PMM2-congenital disorder of glycosylation (ClinVar) Inborn genetic diseases (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801827_8801828delinsGC Codon: CTA/CGC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801827_8801828delinsGC Locations: - p.Leu32Arg (Ensembl:ENST00000568602) - c.95_96delinsGC (Ensembl:ENST00000568602) Disease association: - Inborn genetic diseases - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
VAR_022473 CA340690 RCV000008160 rs104894533 | 32 | L>R | CDG1A (UniProt) PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8801827T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801827T>G Locations: - p.Leu32Arg (UniProt:O15305) - p.Leu32Arg (Ensembl:ENST00000568602) - c.95T>G (Ensembl:ENST00000568602) Disease association: - Congenital disorder of glycosylation 1A (CDG1A) - PMM2-congenital disorder of glycosylation Source type: mixed | |||||||
rs1234062900 | 32 | L>V | Likely pathogenic (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801826C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801826C>G Locations: - p.Leu32Val (Ensembl:ENST00000568602) - c.94C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
COSV51630648 RCV000989519 RCV003332275 RCV003936246 rs149530060 | 33 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) PMM2-congenital disorder of glycosylation (ClinVar) PMM2-related disorder (ClinVar) | Pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001206 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8801829C>T Codon: CAA/TAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801829C>T Locations: - p.Q33* (NCI-TCGA:ENST00000568602) - p.Gln33Ter (Ensembl:ENST00000568602) - c.97C>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation - PMM2-related disorder Source type: large scale study | |||||||
rs149530060 | 33 | Q>E | Pathogenic (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.8801829C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801829C>G Locations: - p.Gln33Glu (Ensembl:ENST00000568602) - c.97C>G (Ensembl:ENST00000568602) Source type: large scale study | |||||||
COSV51631183 rs773229229 | 33 | Q>P | Variant of uncertain significance (Ensembl) | cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.8801830A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801830A>C Locations: - p.Gln33Pro (Ensembl:ENST00000568602) - c.98A>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs760951565 | 34 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.8801833A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801833A>C Locations: - p.Lys34Thr (Ensembl:ENST00000568602) - c.101A>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV000665844 rs1555448899 | 35 | L>* | PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000016.10:g.8801836T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801836T>A Locations: - p.Leu35Ter (Ensembl:ENST00000568602) - c.104T>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
rs368920826 | 36 | R>K | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.8801839G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801839G>A Locations: - p.Arg36Lys (Ensembl:ENST00000568602) - c.107G>A (Ensembl:ENST00000568602) Source type: large scale study | |||||||
RCV000780611 RCV001547621 RCV002535677 rs764353860 | 37 | Q>* | PMM2-congenital disorder of glycosylation (ClinVar) Inborn genetic diseases (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00017 (ClinVar) Accession: NC_000016.10:g.8801841C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801841C>T Locations: - p.Gln37Ter (Ensembl:ENST00000568602) - c.109C>T (Ensembl:ENST00000568602) Disease association: - Inborn genetic diseases - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs764353860 | 37 | Q>E | Pathogenic (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.8801841C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801841C>G Locations: - p.Gln37Glu (Ensembl:ENST00000568602) - c.109C>G (Ensembl:ENST00000568602) Source type: large scale study | |||||||
VAR_022133 CA7893891 COSV107270815 RCV000541854 RCV000605700 rs2304472 | 37 | Q>L | PMM2-congenital disorder of glycosylation (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00379 (ClinVar) Accession: NC_000016.10:g.8801842A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801842A>T Locations: - p.Gln37Leu (UniProt:O15305) - p.Gln37Leu (Ensembl:ENST00000568602) - c.110A>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: mixed | |||||||
rs2060618323 | 38 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801844A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801844A>G Locations: - p.Lys38Glu (Ensembl:ENST00000568602) - c.112A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1432030195 | 39 | I>M | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.8801849C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801849C>G Locations: - p.Ile39Met (Ensembl:ENST00000568602) - c.117C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs766190005 | 40 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.8801850A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801850A>C Locations: - p.Lys40Gln (Ensembl:ENST00000568602) - c.118A>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs751463681 | 41 | I>M | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.8801855C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801855C>G Locations: - p.Ile41Met (Ensembl:ENST00000568602) - c.123C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
VAR_022475 RCV000671748 RCV001756139 RCV001824863 rs755402538 | 42 | G>R | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | UniProt ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000016.10:g.8801856G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801856G>A Locations: - p.Gly42Arg (UniProt:O15305) - p.Gly42Arg (Ensembl:ENST00000568602) - c.124G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: mixed | |||||||
rs755769527 | 43 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801860T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801860T>G Locations: - p.Val43Gly (Ensembl:ENST00000568602) - c.128T>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV001043184 rs376754460 RCV001362106 | 43 | V>L | PMM2-congenital disorder of glycosylation (ClinVar) | Likely pathogenic (Ensembl) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) - MAF: 0.00003 (ClinVar) Accession: NC_000016.10:g.8801859G>T, NC_000016.10:g.8801859G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801859G>T, NC_000016.10:g.8801859G>C Locations: - p.Val43Leu (Ensembl:ENST00000568602) - c.127G>T (Ensembl:ENST00000568602) - c.127G>C (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
CA394695248 COSV108040651 RCV000590850 rs376754460 | 43 | V>M | PMM2-congenital disorder of glycosylation (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000016.10:g.8801859G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801859G>A Locations: - p.Val43Met (Ensembl:ENST00000568602) - c.127G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
VAR_006093 CA254236 RCV000008164 rs104894534 | 44 | V>A | CDG1A (UniProt) PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000016.10:g.8801863T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801863T>C Locations: - p.Val44Ala (UniProt:O15305) - p.Val44Ala (Ensembl:ENST00000568602) - c.131T>C (Ensembl:ENST00000568602) Disease association: - Congenital disorder of glycosylation 1A (CDG1A) - PMM2-congenital disorder of glycosylation Source type: mixed Cross-references: | |||||||
RCV001342702 rs2060618497 | 44 | V>I | PMM2-congenital disorder of glycosylation (ClinVar) | Likely pathogenic (ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000016.10:g.8801862G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801862G>A Locations: - p.Val44Ile (Ensembl:ENST00000568602) - c.130G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs1390662630 | 45 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.8801866G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801866G>A Locations: - p.Gly45Asp (Ensembl:ENST00000568602) - c.134G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV001976126 rs2141017011 | 46 | G>E | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801869G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801869G>A Locations: - p.Gly46Glu (Ensembl:ENST00000568602) - c.137G>A (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs143903584 | 46 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.8801868G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801868G>A Locations: - p.Gly46Arg (Ensembl:ENST00000568602) - c.136G>A (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs138306798 | 47 | S>* | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.8801872C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801872C>A Locations: - p.Ser47Ter (Ensembl:ENST00000568602) - c.140C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
COSV99047965 rs138306798 | 47 | S>L | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000016.10:g.8801872C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801872C>T Locations: - p.Ser47Leu (Ensembl:ENST00000568602) - c.140C>T (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs138306798 | 47 | S>W | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801872C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801872C>G Locations: - p.Ser47Trp (Ensembl:ENST00000568602) - c.140C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1596484132 | 48 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801875A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801875A>G Locations: - p.Asp48Gly (Ensembl:ENST00000568602) - c.143A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs747104013 | 48 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.8801874G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801874G>A Locations: - p.Asp48Asn (Ensembl:ENST00000568602) - c.142G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1263549535 | 49 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000016.10:g.8801879T>A, NC_000016.10:g.8801879T>G Codon: TTT/TTA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801879T>A, NC_000016.10:g.8801879T>G Locations: - p.Phe49Leu (Ensembl:ENST00000568602) - c.147T>A (Ensembl:ENST00000568602) - c.147T>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs768832263 | 49 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000016.10:g.8801877T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801877T>C Locations: - p.Phe49Leu (Ensembl:ENST00000568602) - c.145T>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs768832263 | 49 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.8801877T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801877T>G Locations: - p.Phe49Val (Ensembl:ENST00000568602) - c.145T>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs182336960 | 50 | E>G | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.8801881A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801881A>G Locations: - p.Glu50Gly (Ensembl:ENST00000568602) - c.149A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV001588722 RCV001827541 rs182336960 | 50 | E>V | PMM2-congenital disorder of glycosylation (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000016.10:g.8801881A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801881A>T Locations: - p.Glu50Val (Ensembl:ENST00000568602) - c.149A>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
COSV51631849 rs1209878595 | 51 | K>E | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000016.10:g.8801883A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801883A>G Locations: - p.Lys51Glu (Ensembl:ENST00000568602) - c.151A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
RCV001119267 RCV003246701 rs148608841 | 52 | V>L | PMM2-congenital disorder of glycosylation (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.8801886G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801886G>C Locations: - p.Val52Leu (Ensembl:ENST00000568602) - c.154G>C (Ensembl:ENST00000568602) Disease association: - Inborn genetic diseases - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
CA16608298 RCV000426961 RCV002524853 rs1057520708 | 53 | Q>* | PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.8801889C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801889C>T Locations: - p.Gln53Ter (Ensembl:ENST00000568602) - c.157C>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study Cross-references: | |||||||
rs1481859853 | 53 | Q>H | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.8801891G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801891G>C Locations: - p.Gln53His (Ensembl:ENST00000568602) - c.159G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs766103576 | 53 | Q>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.8801890A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801890A>T Locations: - p.Gln53Leu (Ensembl:ENST00000568602) - c.158A>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs766103576 | 53 | Q>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.8801890A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801890A>C Locations: - p.Gln53Pro (Ensembl:ENST00000568602) - c.158A>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060618865 | 57 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801901G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801901G>A Locations: - p.Gly57Arg (Ensembl:ENST00000568602) - c.169G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060618891 | 58 | N>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.8801904A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801904A>T Locations: - p.Asn58Tyr (Ensembl:ENST00000568602) - c.172A>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs916021971 | 60 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000016.10:g.8802261C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802261C>A Locations: - p.Ala60Asp (Ensembl:ENST00000568602) - c.179C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
CA7893913 RCV000636240 RCV001597192 rs759513930 | 60 | A>S | PMM2-congenital disorder of glycosylation (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.73) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000016.10:g.8801910G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8801910G>T Locations: - p.Ala60Ser (Ensembl:ENST00000568602) - c.178G>T (Ensembl:ENST00000568602) Disease association: - PMM2-congenital disorder of glycosylation Source type: large scale study | |||||||
rs916021971 | 60 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.8802261C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802261C>T Locations: - p.Ala60Val (Ensembl:ENST00000568602) - c.179C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1250450117 | 61 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000016.10:g.8802264C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802264C>A Locations: - p.Pro61His (Ensembl:ENST00000568602) - c.182C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1250450117 | 61 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000016.10:g.8802264C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802264C>T Locations: - p.Pro61Leu (Ensembl:ENST00000568602) - c.182C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1250450117 | 61 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000016.10:g.8802264C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802264C>G Locations: - p.Pro61Arg (Ensembl:ENST00000568602) - c.182C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1950130058 | 61 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NC_000016.10:g.8802263C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802263C>T Locations: - p.Pro61Ser (Ensembl:ENST00000568602) - c.181C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1426085715 | 62 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000016.10:g.8802267T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802267T>A Locations: - p.Leu62His (Ensembl:ENST00000568602) - c.185T>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs775243311 | 62 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: NC_000016.10:g.8802266C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802266C>A Locations: - p.Leu62Ile (Ensembl:ENST00000568602) - c.184C>A (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs775243311 | 62 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000016.10:g.8802266C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802266C>G Locations: - p.Leu62Val (Ensembl:ENST00000568602) - c.184C>G (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs1414552602 | 64 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.8802273C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802273C>T Locations: - p.Ser64Phe (Ensembl:ENST00000568602) - c.191C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs953339850 | 65 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.8802276C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802276C>T Locations: - p.Pro65Leu (Ensembl:ENST00000568602) - c.194C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs562848817 | 67 | L>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.588) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.8802281C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802281C>A Locations: - p.Leu67Met (Ensembl:ENST00000568602) - c.199C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs562848817 | 67 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000016.10:g.8802281C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802281C>G Locations: - p.Leu67Val (Ensembl:ENST00000568602) - c.199C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs761548421 | 69 | Q>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.8802287C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802287C>T Locations: - p.Gln69Ter (Ensembl:ENST00000568602) - c.205C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs764843136 | 69 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000016.10:g.8802288A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802288A>G Locations: - p.Gln69Arg (Ensembl:ENST00000568602) - c.206A>G (Ensembl:ENST00000568602) Source type: large scale study | |||||||
rs957662422 | 72 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.8802296C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802296C>T Locations: - p.Gln72Ter (Ensembl:ENST00000568602) - c.214C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs987792182 | 72 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000016.10:g.8802297A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802297A>G Locations: - p.Gln72Arg (Ensembl:ENST00000568602) - c.215A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1367836587 | 73 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000016.10:g.8802299C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802299C>T Locations: - p.His73Tyr (Ensembl:ENST00000568602) - c.217C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060621066 | 74 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.8802304G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802304G>C Locations: - p.Arg74Ser (Ensembl:ENST00000568602) - c.222G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1220650270 | 75 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.8802305A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802305A>G Locations: - p.Thr75Ala (Ensembl:ENST00000568602) - c.223A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1567156829 | 75 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000016.10:g.8802306C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802306C>T Locations: - p.Thr75Ile (Ensembl:ENST00000568602) - c.224C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1220650270 | 75 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.87) Somatic: No Accession: NC_000016.10:g.8802305A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802305A>T Locations: - p.Thr75Ser (Ensembl:ENST00000568602) - c.223A>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs775500964 | 76 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000016.10:g.8802308C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802308C>G Locations: - p.Pro76Ala (Ensembl:ENST00000568602) - c.226C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs760547577 | 76 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.8802309C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802309C>T Locations: - p.Pro76Leu (Ensembl:ENST00000568602) - c.227C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060621171 | 77 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000016.10:g.8802311A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802311A>G Locations: - p.Lys77Glu (Ensembl:ENST00000568602) - c.229A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1229409630 | 78 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000016.10:g.8802316C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802316C>A Locations: - p.Asn78Lys (Ensembl:ENST00000568602) - c.234C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060621192 | 79 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.8802318A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802318A>G Locations: - p.Gln79Arg (Ensembl:ENST00000568602) - c.236A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs2060621203 | 80 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000016.10:g.8802320A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802320A>G Locations: - p.Arg80Gly (Ensembl:ENST00000568602) - c.238A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1461441305 | 80 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000016.10:g.8802321G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802321G>A Locations: - p.Arg80Lys (Ensembl:ENST00000568602) - c.239G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1461441305 | 80 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000016.10:g.8802321G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802321G>C Locations: - p.Arg80Thr (Ensembl:ENST00000568602) - c.239G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1270524001 | 81 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.8802324G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802324G>A Locations: - p.Gly81Asp (Ensembl:ENST00000568602) - c.242G>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs913582932 | 84 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802333C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802333C>A Locations: - p.Thr84Asn (Ensembl:ENST00000568602) - c.251C>A (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs913582932 | 84 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000016.10:g.8802333C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802333C>G Locations: - p.Thr84Ser (Ensembl:ENST00000568602) - c.251C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1489582080 | 85 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802335C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802335C>G Locations: - p.Pro85Ala (Ensembl:ENST00000568602) - c.253C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1180377484 | 85 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802336C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802336C>T Locations: - p.Pro85Leu (Ensembl:ENST00000568602) - c.254C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1472110926 | 87 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802342T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802342T>C Locations: - p.Leu87Pro (Ensembl:ENST00000568602) - c.260T>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1411517224 | 87 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802341C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802341C>G Locations: - p.Leu87Val (Ensembl:ENST00000568602) - c.259C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1159665459 | 89 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.8802348G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802348G>C Locations: - p.Ser89Thr (Ensembl:ENST00000568602) - c.266G>C (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs758647802 | 90 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802350C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802350C>G Locations: - p.Leu90Val (Ensembl:ENST00000568602) - c.268C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1288619218 | 91 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802354C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802354C>T Locations: - p.Thr91Ile (Ensembl:ENST00000568602) - c.272C>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1288619218 | 91 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.8802354C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802354C>G Locations: - p.Thr91Ser (Ensembl:ENST00000568602) - c.272C>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1169787835 | 92 | *>L | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.8802357G>T Codon: TGA/TTA Consequence type: stop lost Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802357G>T Locations: - p.Ter92LeuextTer1 (Ensembl:ENST00000568602) - c.275G>T (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1350028690 | 92 | *>W | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.8802358A>G Codon: TGA/TGG Consequence type: stop lost Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802358A>G Locations: - p.Ter92TrpextTer1 (Ensembl:ENST00000568602) - c.276A>G (Ensembl:ENST00000568602) Source type: large scale study Cross-references: | |||||||
rs1350750779 | 92 | *>Y | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.8802357del Codon: TGA/TA Consequence type: stop lost Cytogenetic band: 16p13.2 Genomic location: NC_000016.10:g.8802357del Locations: - p.Ter92TyrfsTer26 (Ensembl:ENST00000568602) - c.275del (Ensembl:ENST00000568602) Source type: large scale study Cross-references: |