| Variant ID | 11541 |
|---|---|
| Entrez Gene ID | 221935 |
| Gene | SDK1 (GeneCards) |
| Location | hg19 7:4681301-4681301
hg38 7:4641670-4641670 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.4681301 C>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.025 |
| CADD Raw score (version 1.3) | 0.294295 (Deleterious) |
| FATHMM raw prediction score | 0.25612 (Tolerated) |
| Deleterious probability by DeFine | 0.7835 (Deleterious) |
| Entrez Gene ID | 221935 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SDK1 (GeneCards) |
| Number of variants in SDK1 in this database | 14 (view all the variants) |
| Full name | sidekick cell adhesion molecule 1 |
| Band | 7p22.2 |
| Other IDs | Vega: OTTHUMG00000151733 OMIM: 607216 HGNC: HGNC:19307 Ensembl: ENSG00000146555 |
| Other names | None |
| Summary | The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] |
| 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; |