| Variant ID | 30205 |
|---|---|
| Entrez Gene ID | 2566 |
| Gene | GABRG2 (GeneCards) |
| Location | hg19 5:161522522-161522522
hg38 5:162095516-162095516 |
| Disease | Febrile Seizures (view all the variants in this disease) |
| Method | Raindance Emulsion PCR |
| Mutation(HGVS format) | NC_000005.9:g.161522522 C>A (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | 94 |
| Amino acid changes in protein | T > K |
| Position in cDNA | 281 |
| Changes in cDNA | C > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.878 |
| CADD Raw score (version 1.3) | 7.247699 (Deleterious) |
| FATHMM raw prediction score | 0.98539 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.585 (Deleterious) |
| PROVEAN score | -3.84 (Deleterious) |
| MetaSVM score | 0.495 (Deleterious) |
| MetaLR score | 0.716 (Deleterious) |
| MCAP score | 0.246 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.07 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.762 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.644 |
| Deleterious probability by iFish2 | 0.8666 (Deleterious) |
| Deleterious probability by DeFine | 0.9619 (Deleterious) |
| Entrez Gene ID | 2566 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GABRG2 (GeneCards) |
| Number of variants in GABRG2 in this database | 18 (view all the variants) |
| Full name | gamma-aminobutyric acid type A receptor gamma2 subunit |
| Band | 5q34 |
| Other IDs | Vega: OTTHUMG00000130350 OMIM: 137164 HGNC: HGNC:4087 Ensembl: ENSG00000113327 |
| Other names | CAE2, ECA2, GEFSP3 |
| Summary | This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28837158.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28837158 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Febrile Seizures (view all the variants in this disease) |
| OMIM ID | 611277 |
| Pubmed ID | 28837158 |
|---|---|
| Title | High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders |
| Journal | Genetics in Medicine |
| Publication date | 2017.08 |
| Disease | Epilepsy related neurodevelopmental disorder |
| Number of cases | Male cases: 22; Female cases: 9; |