| Variant ID | 10418 |
|---|---|
| Entrez Gene ID | 7979 |
| Gene | SHFM1 (GeneCards) |
| Location | hg19 7:96358565-96358565
hg38 7:96729253-96729253 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.96358565 A>C (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 | -0.1095 |
| CADD Raw score (version 1.3) | -0.5038 (Deleterious) |
| FATHMM raw prediction score | 0.15523 (Tolerated) |
| Deleterious probability by DeFine | 0.2896 (Neutral) |
| Entrez Gene ID | 7979 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SHFM1 (GeneCards) |
| Number of variants in SEM1 in this database | 5 (view all the variants) |
| Full name | SEM1, 26S proteasome complex subunit |
| Band | 7q21.3 |
| Other IDs | Vega: OTTHUMG00000150680 OMIM: 601285 HGNC: HGNC:10845 Ensembl: ENSG00000127922 |
| Other names | ECD, DSS1, SHFD1, SHFM1, SHSF1, Shfdg1, C7orf76 |
| Summary | The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008] |
| 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; |