| Variant ID | 900 |
|---|---|
| Entrez Gene ID | 610 |
| Gene | HCN2 (GeneCards) |
| Location | hg19 19:603813-603813
hg38 19:603813-603813 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.603813 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 301 |
| Amino acid changes in protein | V > G |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5835 |
| CADD Raw score (version 1.3) | 5.415142 (Deleterious) |
| FATHMM raw prediction score | 0.95789 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.83 (Deleterious) |
| PROVEAN score | -6 (Deleterious) |
| MetaSVM score | 1.079 (Deleterious) |
| MetaLR score | 0.956 (Deleterious) |
| MCAP score | 0.804 (Deleterious) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.84 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.801 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.53 |
| Deleterious probability by iFish2 | 0.9392 (Deleterious) |
| Deleterious probability by DeFine | 0.8066 (Deleterious) |
| Entrez Gene ID | 610 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HCN2 (GeneCards) |
| Number of variants in HCN2 in this database | 1 (view all the variants) |
| Full name | hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000180590 OMIM: 602781 HGNC: HGNC:4846 Ensembl: ENSG00000099822 |
| Other names | BCNG2, HAC-1, BCNG-2 |
| Summary | The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |