| Variant ID | 11438 |
|---|---|
| Entrez Gene ID | 8976 |
| Gene | WASL (GeneCards) |
| Location | hg19 7:123355331-123355331
hg38 7:123715277-123715277 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.123355331 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.046 |
| CADD Raw score (version 1.3) | 0.129531 (Deleterious) |
| FATHMM raw prediction score | 0.25245 (Tolerated) |
| Deleterious probability by DeFine | 0.5516 (Deleterious) |
| Entrez Gene ID | 8976 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WASL (GeneCards) |
| Number of variants in WASL in this database | 1 (view all the variants) |
| Full name | Wiskott-Aldrich syndrome like |
| Band | 7q31.32 |
| Other IDs | Vega: OTTHUMG00000157346 OMIM: 605056 HGNC: HGNC:12735 Ensembl: ENSG00000106299 |
| Other names | NWASP, WASPB, N-WASP |
| Summary | This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013] |
| 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; |