| Variant ID | 29354 |
|---|---|
| Entrez Gene ID | 408050 |
| Gene | NOMO3 (GeneCards) |
| Location | hg19 16:16367883-16367883
hg38 16:16274026-16274026 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.16367883 T>A (Genome Assembly: hg19) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8127 |
| CADD Raw score (version 1.3) | 0.667897 (Deleterious) |
| FATHMM raw prediction score | 0.94096 (Tolerated) |
| Deleterious probability by DeFine | 0.6974 (Deleterious) |
| Entrez Gene ID | 408050 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOMO3 (GeneCards) |
| Number of variants in NOMO3 in this database | 1 (view all the variants) |
| Full name | NODAL modulator 3 |
| Band | 16p13.11 |
| Other IDs | Vega: OTTHUMG00000177317 OMIM: 609159 HGNC: HGNC:25242 Ensembl: ENSG00000103226 |
| Other names | Nomo |
| Summary | This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.30 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |