| Variant ID | 20123 |
|---|---|
| Entrez Gene ID | 40 |
| Gene | ASIC2 (GeneCards) |
| Location | hg19 17:31836784-31836784
hg38 17:33509765-33509765 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.31836784 G>A (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 | 0.4121 |
| CADD Raw score (version 1.3) | 1.780063 (Deleterious) |
| FATHMM raw prediction score | 0.19217 (Tolerated) |
| Deleterious probability by DeFine | 0.7754 (Deleterious) |
| Entrez Gene ID | 40 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASIC2 (GeneCards) |
| Number of variants in ASIC2 in this database | 14 (view all the variants) |
| Full name | acid sensing ion channel subunit 2 |
| Band | 17q11.2-q12 |
| Other IDs | Vega: OTTHUMG00000132885 OMIM: 601784 HGNC: HGNC:99 Ensembl: ENSG00000108684 |
| Other names | ACCN, BNC1, MDEG, ACCN1, BNaC1, ASIC2a, hBNaC1 |
| Summary | This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] |
| 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; |