| Variant ID | 8696 |
|---|---|
| Entrez Gene ID | 348980 |
| Gene | HCN1 (GeneCards) |
| Location | hg19 5:45805121-45805121
hg38 5:45805019-45805019 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.45805121 C>T (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1692 |
| CADD Raw score (version 1.3) | 0.373795 (Deleterious) |
| FATHMM raw prediction score | 0.13062 (Tolerated) |
| Deleterious probability by DeFine | 0.0792 (Neutral) |
| Entrez Gene ID | 348980 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HCN1 (GeneCards) |
| Number of variants in HCN1 in this database | 13 (view all the variants) |
| Full name | hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
| Band | 5p12 |
| Other IDs | Vega: OTTHUMG00000131155 OMIM: 602780 HGNC: HGNC:4845 Ensembl: ENSG00000164588 |
| Other names | BCNG1, HAC-2, BCNG-1, EIEE24 |
| Summary | The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011] |
| 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; |