| Variant ID | 5701 |
|---|---|
| Entrez Gene ID | 285220 |
| Gene | EPHA6 (GeneCards) |
| Location | hg19 3:97442162-97442162
hg38 3:97723318-97723318 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.97442162 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0589 |
| CADD Raw score (version 1.3) | -0.041272 (Deleterious) |
| FATHMM raw prediction score | 0.12622 (Tolerated) |
| Deleterious probability by DeFine | 0.6166 (Deleterious) |
| Entrez Gene ID | 285220 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPHA6 (GeneCards) |
| Number of variants in EPHA6 in this database | 8 (view all the variants) |
| Full name | EPH receptor A6 |
| Band | 3q11.2 |
| Other IDs | Vega: OTTHUMG00000159208 OMIM: 600066 HGNC: HGNC:19296 Ensembl: ENSG00000080224 |
| Other names | EHK2, EK12, EPA6, EHK-2, HEK12, PRO57066 |
| Summary | None |
| 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; |