| Variant ID | 14765 |
|---|---|
| Entrez Gene ID | 387694 |
| Gene | SH2D4B (GeneCards) |
| Location | hg19 10:82718672-82718672
hg38 10:80958916-80958916 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.82718672 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3974 |
| CADD Raw score (version 1.3) | -0.198809 (Deleterious) |
| FATHMM raw prediction score | 0.08847 (Tolerated) |
| Deleterious probability by DeFine | 0.3538 (Neutral) |
| Entrez Gene ID | 387694 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SH2D4B (GeneCards) |
| Number of variants in SH2D4B in this database | 19 (view all the variants) |
| Full name | SH2 domain containing 4B |
| Band | 10q23.1 |
| Other IDs | Vega: OTTHUMG00000018617 HGNC: HGNC:31440 Ensembl: ENSG00000178217 |
| Other names | None |
| Summary | None |
| 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; |