| Variant ID | 18054 |
|---|---|
| Entrez Gene ID | 57578 |
| Gene | UNC79 (GeneCards) |
| Location | hg19 14:94000482-94000482
hg38 14:93534136-93534136 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000014.8:g.94000482 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3029 |
| CADD Raw score (version 1.3) | -0.020351 (Deleterious) |
| FATHMM raw prediction score | 0.0973 (Tolerated) |
| Deleterious probability by DeFine | 0.3359 (Neutral) |
| Entrez Gene ID | 57578 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UNC79 (GeneCards) |
| Number of variants in UNC79 in this database | 3 (view all the variants) |
| Full name | unc-79 homolog, NALCN channel complex subunit |
| Band | 14q32.12 |
| Other IDs | Vega: OTTHUMG00000029783 OMIM: 616884 HGNC: HGNC:19966 Ensembl: ENSG00000133958 |
| Other names | KIAA1409 |
| Summary | The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016] |
| Individual ID | 29217584.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |