| Variant ID | 19311 |
|---|---|
| Entrez Gene ID | 8925 |
| Gene | HERC1 (GeneCards) |
| Location | hg19 15:64092578-64092578
hg38 15:63800379-63800379 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.64092578 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.118 |
| CADD Raw score (version 1.3) | 0.163842 (Deleterious) |
| FATHMM raw prediction score | 0.1366 (Tolerated) |
| Deleterious probability by DeFine | 0.1837 (Neutral) |
| Entrez Gene ID | 8925 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HERC1 (GeneCards) |
| Number of variants in HERC1 in this database | 5 (view all the variants) |
| Full name | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000172433 OMIM: 605109 HGNC: HGNC:4867 Ensembl: ENSG00000103657 |
| Other names | p532, p619, MDFPMR |
| Summary | This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] |
| 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; |