| Variant ID | 29909 |
|---|---|
| Entrez Gene ID | 4729 |
| Gene | NDUFV2 (GeneCards) |
| Location | hg19 18:9122553-9122553
hg38 18:9122555-9122555 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000018.9:g.9122553 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs201379044 |
| EIGEN score | 0.9906 |
| CADD Raw score (version 1.3) | 6.520779 (Deleterious) |
| FATHMM raw prediction score | 0.9931 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.78 (Deleterious) |
| PROVEAN score | -0.98 (Tolerated) |
| MetaSVM score | 0 (Tolerated) |
| MetaLR score | 0.506 (Deleterious) |
| MCAP score | 0.037 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.93 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.754 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.34 |
| Deleterious probability by iFish2 | 0.8098 (Deleterious) |
| Deleterious probability by DeFine | 0.9328 (Deleterious) |
| Entrez Gene ID | 4729 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NDUFV2 (GeneCards) |
| Number of variants in NDUFV2 in this database | 1 (view all the variants) |
| Full name | NADH:ubiquinone oxidoreductase core subunit V2 |
| Band | 18p11.22 |
| Other IDs | Vega: OTTHUMG00000131593 OMIM: 600532 HGNC: HGNC:7717 Ensembl: ENSG00000178127 |
| Other names | CI-24k |
| Summary | The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009] |
| Individual ID | 28867142.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |