| Variant ID | 22371 |
|---|---|
| Entrez Gene ID | 7547 |
| Gene | ZIC3 (GeneCards) |
| Location | hg19 X:136784804-136784804
hg38 X:137702645-137702645 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.136784804 A>G (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0.00004589 |
|---|---|
| CADD Raw score (version 1.3) | 0.081869 (Deleterious) |
| FATHMM raw prediction score | 0.15642 (Tolerated) |
| Deleterious probability by DeFine | 0.2942 (Neutral) |
| Entrez Gene ID | 7547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZIC3 (GeneCards) |
| Number of variants in ZIC3 in this database | 11 (view all the variants) |
| Full name | Zic family member 3 |
| Band | Xq26.3 |
| Other IDs | Vega: OTTHUMG00000022525 OMIM: 300265 HGNC: HGNC:12874 Ensembl: ENSG00000156925 |
| Other names | HTX, HTX1, ZNF203, VACTERLX |
| Summary | This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008] |
| 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; |