| Variant ID | 12623 |
|---|---|
| Entrez Gene ID | 54212 |
| Gene | SNTG1 (GeneCards) |
| Location | hg19 8:51128621-51128621
hg38 8:50216061-50216061 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.51128621 A>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2323 |
| CADD Raw score (version 1.3) | -0.223622 (Deleterious) |
| FATHMM raw prediction score | 0.09721 (Tolerated) |
| Deleterious probability by DeFine | 0.3835 (Neutral) |
| Entrez Gene ID | 54212 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNTG1 (GeneCards) |
| Number of variants in SNTG1 in this database | 23 (view all the variants) |
| Full name | syntrophin gamma 1 |
| Band | 8q11.21 |
| Other IDs | Vega: OTTHUMG00000164257 OMIM: 608714 HGNC: HGNC:13740 Ensembl: ENSG00000147481 |
| Other names | SYN4, G1SYN |
| Summary | The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016] |
| Individual ID | 29217584.17 (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; |