| Variant ID | 13880 |
|---|---|
| Entrez Gene ID | 22891 |
| Gene | ZNF365 (GeneCards) |
| Location | hg19 10:64235479-64235479
hg38 10:62475720-62475720 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.64235479 G>A (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2473 |
| CADD Raw score (version 1.3) | 2.755447 (Deleterious) |
| FATHMM raw prediction score | 0.96392 (Tolerated) |
| Deleterious probability by DeFine | 0.8654 (Deleterious) |
| Entrez Gene ID | 22891 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF365 (GeneCards) |
| Number of variants in ZNF365 in this database | 7 (view all the variants) |
| Full name | zinc finger protein 365 |
| Band | 10q21.2 |
| Other IDs | Vega: OTTHUMG00000018302 OMIM: 607818 HGNC: HGNC:18194 Ensembl: ENSG00000138311 |
| Other names | UAN, S48, ZNF365D |
| Summary | This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [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; |