| Variant ID | 20764 |
|---|---|
| Entrez Gene ID | 55628 |
| Gene | ZNF407 (GeneCards) |
| Location | hg19 18:72749820-72749820
hg38 18:75037864-75037864 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.72749820 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs143260214 |
| EIGEN score | 0.5502 |
| CADD Raw score (version 1.3) | 0.866597 (Deleterious) |
| FATHMM raw prediction score | 0.16894 (Tolerated) |
| Deleterious probability by DeFine | 0.7857 (Deleterious) |
| Entrez Gene ID | 55628 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF407 (GeneCards) |
| Number of variants in ZNF407 in this database | 10 (view all the variants) |
| Full name | zinc finger protein 407 |
| Band | 18q22.3 |
| Other IDs | Vega: OTTHUMG00000179122 OMIM: 615894 HGNC: HGNC:19904 Ensembl: ENSG00000215421 |
| Other names | None |
| Summary | This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
| Individual ID | 29217584.22 (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; |