| Variant ID | 8616 |
|---|---|
| Entrez Gene ID | 256006 |
| Gene | ANKRD31 (GeneCards) |
| Location | hg19 5:74427275-74427275
hg38 5:75131450-75131450 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.74427275 C>T (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009685 |
|---|---|
| EIGEN score | -0.7328 |
| CADD Raw score (version 1.3) | -0.593958 (Deleterious) |
| FATHMM raw prediction score | 0.03399 (Tolerated) |
| Deleterious probability by DeFine | 0.1377 (Neutral) |
| Entrez Gene ID | 256006 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANKRD31 (GeneCards) |
| Number of variants in ANKRD31 in this database | 4 (view all the variants) |
| Full name | ankyrin repeat domain 31 |
| Band | 5q13.3 |
| Other IDs | Vega: OTTHUMG00000162649 HGNC: HGNC:26853 Ensembl: ENSG00000145700 |
| Other names | None |
| Summary | This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |