| Variant ID | 8699 |
|---|---|
| Entrez Gene ID | 4437 |
| Gene | MSH3 (GeneCards) |
| Location | hg19 5:80171235-80171235
hg38 5:80875416-80875416 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.80171235 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2573 |
| CADD Raw score (version 1.3) | -0.10928 (Deleterious) |
| FATHMM raw prediction score | 0.10798 (Tolerated) |
| Deleterious probability by DeFine | 0.2963 (Neutral) |
| Entrez Gene ID | 4437 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MSH3 (GeneCards) |
| Number of variants in MSH3 in this database | 5 (view all the variants) |
| Full name | mutS homolog 3 |
| Band | 5q14.1 |
| Other IDs | Vega: OTTHUMG00000162540 OMIM: 600887 HGNC: HGNC:7326 Ensembl: ENSG00000113318 |
| Other names | DUP, FAP4, MRP1 |
| Summary | The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |