| Variant ID | 3169 |
|---|---|
| Entrez Gene ID | 285175 |
| Gene | UNC80 (GeneCards) |
| Location | hg19 2:210690682-210690682
hg38 2:209825958-209825958 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.210690682 A>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9343 |
| CADD Raw score (version 1.3) | 13.285411 (Deleterious) |
| FATHMM raw prediction score | 0.99484 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.282 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.267 |
| Deleterious probability by DeFine | 0.9457 (Deleterious) |
| Entrez Gene ID | 285175 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UNC80 (GeneCards) |
| Number of variants in UNC80 in this database | 3 (view all the variants) |
| Full name | unc-80 homolog, NALCN channel complex subunit |
| Band | 2q34 |
| Other IDs | Vega: OTTHUMG00000132963 OMIM: 612636 HGNC: HGNC:26582 Ensembl: ENSG00000144406 |
| Other names | UNC-80, C2orf21 |
| Summary | The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016] |
| Individual ID | 29217584.06 (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; |