| Variant ID | 11285 |
|---|---|
| Entrez Gene ID | 51314 |
| Gene | NME8 (GeneCards) |
| Location | hg19 7:37888229-37888229
hg38 7:37848627-37848627 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.37888229 G>C (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0765 |
| CADD Raw score (version 1.3) | -0.239264 (Deleterious) |
| FATHMM raw prediction score | 0.19771 (Tolerated) |
| Deleterious probability by DeFine | 0.752 (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 | 29217584.15 (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; |