| Variant ID | 22284 |
|---|---|
| Entrez Gene ID | 6451 |
| Gene | SH3BGRL (GeneCards) |
| Location | hg19 X:82057036-82057036
hg38 X:82802028-82802028 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.82057036 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.156993 (Deleterious) |
| FATHMM raw prediction score | 0.05652 (Tolerated) |
| Deleterious probability by DeFine | 0.16 (Neutral) |
| Entrez Gene ID | 6451 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SH3BGRL (GeneCards) |
| Number of variants in SH3BGRL in this database | 13 (view all the variants) |
| Full name | SH3 domain binding glutamate rich protein like |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021910 OMIM: 300190 HGNC: HGNC:10823 Ensembl: ENSG00000131171 |
| Other names | SH3BGR, HEL-S-115 |
| Summary | None |
| Individual ID | 29217584.16 (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; |