| Variant ID | 13366 |
|---|---|
| Entrez Gene ID | 7763 |
| Gene | ZFAND5 (GeneCards) |
| Location | hg19 9:74988984-74988984
hg38 9:72374068-72374068 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.74988984 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0067 |
| CADD Raw score (version 1.3) | 1.453775 (Deleterious) |
| FATHMM raw prediction score | 0.24129 (Tolerated) |
| Deleterious probability by DeFine | 0.1998 (Neutral) |
| Entrez Gene ID | 7763 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZFAND5 (GeneCards) |
| Number of variants in ZFAND5 in this database | 3 (view all the variants) |
| Full name | zinc finger AN1-type containing 5 |
| Band | 9q21.13 |
| Other IDs | Vega: OTTHUMG00000020008 OMIM: 604761 HGNC: HGNC:13008 Ensembl: ENSG00000107372 |
| Other names | ZA20D2, ZNF216, ZFAND5A |
| Summary | None |
| Individual ID | 29217584.12 (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; |