| Variant ID | 22319 |
|---|---|
| Entrez Gene ID | 80258 |
| Gene | EFHC2 (GeneCards) |
| Location | hg19 X:44374290-44374290
hg38 X:44515044-44515044 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.44374290 T>A (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 2.045541 (Deleterious) |
| FATHMM raw prediction score | 0.13096 (Tolerated) |
| Deleterious probability by DeFine | 0.2139 (Neutral) |
| Entrez Gene ID | 80258 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EFHC2 (GeneCards) |
| Number of variants in EFHC2 in this database | 7 (view all the variants) |
| Full name | EF-hand domain containing 2 |
| Band | Xp11.3 |
| Other IDs | Vega: OTTHUMG00000021393 OMIM: 300817 HGNC: HGNC:26233 Ensembl: ENSG00000183690 |
| Other names | MRX74, dJ1158H2.1 |
| Summary | This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.19 (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; |