| Variant ID | 10646 |
|---|---|
| Entrez Gene ID | 23072 |
| Gene | HECW1 (GeneCards) |
| Location | hg19 7:43450750-43450750
hg38 7:43411151-43411151 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.43450750 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2597 |
| CADD Raw score (version 1.3) | -0.353069 (Deleterious) |
| FATHMM raw prediction score | 0.039 (Tolerated) |
| Deleterious probability by DeFine | 0.0432 (Neutral) |
| Entrez Gene ID | 23072 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HECW1 (GeneCards) |
| Number of variants in HECW1 in this database | 3 (view all the variants) |
| Full name | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 |
| Band | 7p14.1-p13 |
| Other IDs | Vega: OTTHUMG00000128917 OMIM: 610384 HGNC: HGNC:22195 Ensembl: ENSG00000002746 |
| Other names | NEDL1 |
| Summary | None |
| Individual ID | 29217584.08 (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; |