| Variant ID | 1011 |
|---|---|
| Entrez Gene ID | 441452 |
| Gene | SPATA31C1 (GeneCards) |
| Location | hg19 9:90537008-90537008
hg38 9:87922093-87922093 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.90537008 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 729 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4801 |
| CADD Raw score (version 1.3) | 0.105155 (Deleterious) |
| FATHMM raw prediction score | 0.03597 (Tolerated) |
| Deleterious probability by iFish2 | 0.0063 (Neutral) |
| Deleterious probability by DeFine | 0.4517 (Neutral) |
| Entrez Gene ID | 441452 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPATA31C1 (GeneCards) |
| Number of variants in SPATA31C1 in this database | 1 (view all the variants) |
| Full name | SPATA31 subfamily C member 1 |
| Band | 9q22.1 |
| Other IDs | HGNC: HGNC:27846 |
| Other names | FAM75C1, SPATA31C2 |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |