| Variant ID | 4667 |
|---|---|
| Entrez Gene ID | 83893 |
| Gene | SPATA16 (GeneCards) |
| Location | hg19 3:172609924-172609924
hg38 3:172892134-172892134 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.172609924 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 0.188 |
| CADD Raw score (version 1.3) | -0.071588 (Deleterious) |
| FATHMM raw prediction score | 0.18609 (Tolerated) |
| Deleterious probability by DeFine | 0.2598 (Neutral) |
| Entrez Gene ID | 83893 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPATA16 (GeneCards) |
| Number of variants in SPATA16 in this database | 6 (view all the variants) |
| Full name | spermatogenesis associated 16 |
| Band | 3q26.31 |
| Other IDs | Vega: OTTHUMG00000156865 OMIM: 609856 HGNC: HGNC:29935 Ensembl: ENSG00000144962 |
| Other names | SPGF6, NYD-SP12 |
| Summary | This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |