| Variant ID | 21769 |
|---|---|
| Entrez Gene ID | 64092 |
| Gene | SAMSN1 (GeneCards) |
| Location | hg19 21:15928194-15928194
hg38 21:14555873-14555873 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.15928194 A>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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1883 |
| CADD Raw score (version 1.3) | 0.480954 (Deleterious) |
| FATHMM raw prediction score | 0.18023 (Tolerated) |
| Deleterious probability by DeFine | 0.3724 (Neutral) |
| Entrez Gene ID | 64092 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SAMSN1 (GeneCards) |
| Number of variants in SAMSN1 in this database | 2 (view all the variants) |
| Full name | SAM domain, SH3 domain and nuclear localization signals 1 |
| Band | 21q11.2 |
| Other IDs | Vega: OTTHUMG00000074317 OMIM: 607978 HGNC: HGNC:10528 Ensembl: ENSG00000155307 |
| Other names | SLy2, HACS1, NASH1, SASH2, SH3D6B |
| Summary | SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.17 (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; |