| Variant ID | 7207 |
|---|---|
| Entrez Gene ID | 10144 |
| Gene | FAM13A (GeneCards) |
| Location | hg19 4:89869070-89869070
hg38 4:88947919-88947919 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.89869070 C>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2808 |
| CADD Raw score (version 1.3) | -0.074779 (Deleterious) |
| FATHMM raw prediction score | 0.11748 (Tolerated) |
| Deleterious probability by DeFine | 0.2888 (Neutral) |
| Entrez Gene ID | 10144 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM13A (GeneCards) |
| Number of variants in FAM13A in this database | 5 (view all the variants) |
| Full name | family with sequence similarity 13 member A |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000161006 OMIM: 613299 HGNC: HGNC:19367 Ensembl: ENSG00000138640 |
| Other names | FAM13A1, ARHGAP48 |
| Summary | None |
| 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; |