| Variant ID | 29006 |
|---|---|
| Entrez Gene ID | 139741 |
| Gene | ACTRT1 (GeneCards) |
| Location | hg19 X:127324814-127324814
hg38 X:128190837-128190837 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.127324814 G>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.792581 (Deleterious) |
| FATHMM raw prediction score | 0.03758 (Tolerated) |
| Deleterious probability by DeFine | 0.163 (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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |