| Variant ID | 1575 |
|---|---|
| Entrez Gene ID | 57578 |
| Gene | UNC79 (GeneCards) |
| Location | hg19 14:94129046-94129046
hg38 14:93662700-93662700 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000014.8:g.94129046 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2070 |
| Amino acid changes in protein | R > * |
| Position in cDNA | 6208 |
| Changes in cDNA | C > T |
| mRNA accession | NM_020818.3 |
| mRNA length | 8471 |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5091 |
| CADD Raw score (version 1.3) | 15.023275 (Deleterious) |
| FATHMM raw prediction score | 0.97404 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.644 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.943 |
| Deleterious probability by DeFine | 0.8487 (Deleterious) |
| 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 | 28867142.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |