| Variant ID | 5913 |
|---|---|
| Entrez Gene ID | 1618 |
| Gene | DAZL (GeneCards) |
| Location | hg19 3:16776510-16776510
hg38 3:16735003-16735003 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.16776510 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0599 |
| CADD Raw score (version 1.3) | 1.187363 (Deleterious) |
| FATHMM raw prediction score | 0.36518 (Tolerated) |
| Deleterious probability by DeFine | 0.0831 (Neutral) |
| Entrez Gene ID | 1618 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DAZL (GeneCards) |
| Number of variants in DAZL in this database | 10 (view all the variants) |
| Full name | deleted in azoospermia like |
| Band | 3p24.3 |
| Other IDs | Vega: OTTHUMG00000157050 OMIM: 601486 HGNC: HGNC:2685 Ensembl: ENSG00000092345 |
| Other names | DAZH, DAZL1, DAZLA, SPGYLA |
| Summary | The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 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; |