| Variant ID | 10422 |
|---|---|
| Entrez Gene ID | 100287482 |
| Gene | SMKR1 (GeneCards) |
| Location | hg19 7:129219694-129219694
hg38 7:129579853-129579853 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.129219694 C>T (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 | -0.1008 |
| CADD Raw score (version 1.3) | 0.766064 (Deleterious) |
| FATHMM raw prediction score | 0.21204 (Tolerated) |
| Deleterious probability by DeFine | 0.0817 (Neutral) |
| Entrez Gene ID | 100287482 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMKR1 (GeneCards) |
| Number of variants in SMKR1 in this database | 2 (view all the variants) |
| Full name | small lysine rich protein 1 |
| Band | 7q32.1 |
| Other IDs | Vega: OTTHUMG00000157696 HGNC: HGNC:43561 Ensembl: ENSG00000240204 |
| Other names | None |
| Summary | None |
| 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; |