| Variant ID | 14769 |
|---|---|
| Entrez Gene ID | 8036 |
| Gene | SHOC2 (GeneCards) |
| Location | hg19 10:112691396-112691396
hg38 10:110931638-110931638 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.112691396 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0618 |
| CADD Raw score (version 1.3) | 0.071561 (Deleterious) |
| FATHMM raw prediction score | 0.13083 (Tolerated) |
| Deleterious probability by DeFine | 0.2588 (Neutral) |
| Entrez Gene ID | 8036 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SHOC2 (GeneCards) |
| Number of variants in SHOC2 in this database | 3 (view all the variants) |
| Full name | SHOC2, leucine rich repeat scaffold protein |
| Band | 10q25.2 |
| Other IDs | Vega: OTTHUMG00000019047 OMIM: 602775 HGNC: HGNC:15454 Ensembl: ENSG00000108061 |
| Other names | SOC2, SUR8, SIAA0862 |
| Summary | This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |