| Variant ID | 29802 |
|---|---|
| Entrez Gene ID | 51314 |
| Gene | NME8 (GeneCards) |
| Location | hg19 7:37889860-37889860
hg38 7:37850258-37850258 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.37889860 A>T (Genome Assembly: hg19) |
| Exon or Intron | splicing |
|---|---|
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6373 |
| CADD Raw score (version 1.3) | 1.800141 (Deleterious) |
| FATHMM raw prediction score | 0.19419 (Tolerated) |
| Deleterious probability by DeFine | 0.5633 (Deleterious) |
| Entrez Gene ID | 51314 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NME8 (GeneCards) |
| Number of variants in NME8 in this database | 2 (view all the variants) |
| Full name | NME/NM23 family member 8 |
| Band | 7p14.1 |
| Other IDs | Vega: OTTHUMG00000023716 OMIM: 607421 HGNC: HGNC:16473 Ensembl: ENSG00000086288 |
| Other names | CILD6, SPTRX2, TXNDC3, NM23-H8, sptrx-2, HEL-S-99 |
| Summary | This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009] |
| Individual ID | 28867142.28 (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; |