| Variant ID | 19976 |
|---|---|
| Entrez Gene ID | 23293 |
| Gene | SMG6 (GeneCards) |
| Location | hg19 17:2115815-2115815
hg38 17:2212521-2212521 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.2115815 T>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.7819 |
| CADD Raw score (version 1.3) | 1.030962 (Deleterious) |
| FATHMM raw prediction score | 0.98415 (Tolerated) |
| Deleterious probability by DeFine | 0.9617 (Deleterious) |
| Entrez Gene ID | 23293 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMG6 (GeneCards) |
| Number of variants in SMG6 in this database | 2 (view all the variants) |
| Full name | SMG6, nonsense mediated mRNA decay factor |
| Band | 17p13.3 |
| Other IDs | Vega: OTTHUMG00000177578 OMIM: 610963 HGNC: HGNC:17809 Ensembl: ENSG00000070366 |
| Other names | EST1A, SMG-6, C17orf31, hSMG5/7a |
| Summary | This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |