| Variant ID | 10156 |
|---|---|
| Entrez Gene ID | 387066 |
| Gene | SNHG5 (GeneCards) |
| Location | hg19 6:86737715-86737715
hg38 6:86027997-86027997 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.86737715 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4104 |
| CADD Raw score (version 1.3) | -0.053351 (Deleterious) |
| FATHMM raw prediction score | 0.05415 (Tolerated) |
| Deleterious probability by DeFine | 0.056 (Neutral) |
| Entrez Gene ID | 387066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNHG5 (GeneCards) |
| Number of variants in SNHG5 in this database | 11 (view all the variants) |
| Full name | small nucleolar RNA host gene 5 |
| Band | 6q14.3 |
| Other IDs | OMIM: 613263 HGNC: HGNC:21026 Ensembl: ENSG00000203875 |
| Other names | U50HG, C6orf160, LINC00044, NCRNA00044 |
| Summary | This gene represent a snoRNA host gene and produces a long non-coding RNA. This RNA may regulate gene expression by acting as a sponge for microRNAs. This transcript may also stabilize mRNAs by blocking degradation by staufen double-stranded RNA binding protein 1. [provided by RefSeq, Dec 2017] |
| 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; |