| Variant ID | 22364 |
|---|---|
| Entrez Gene ID | 139741 |
| Gene | ACTRT1 (GeneCards) |
| Location | hg19 X:128192475-128192475
hg38 X:129058498-129058498 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.128192475 T>C (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.023299 (Deleterious) |
| FATHMM raw prediction score | 0.12568 (Tolerated) |
| Deleterious probability by DeFine | 0.363 (Neutral) |
| Entrez Gene ID | 139741 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ACTRT1 (GeneCards) |
| Number of variants in ACTRT1 in this database | 11 (view all the variants) |
| Full name | actin related protein T1 |
| Band | Xq25 |
| Other IDs | Vega: OTTHUMG00000022359 OMIM: 300487 HGNC: HGNC:24027 Ensembl: ENSG00000123165 |
| Other names | AIP1, ARIP1, ARPT1, HSD27 |
| Summary | This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |