| Variant ID | 22296 |
|---|---|
| Entrez Gene ID | 1730 |
| Gene | DIAPH2 (GeneCards) |
| Location | hg19 X:97750294-97750294
hg38 X:98495296-98495296 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.97750294 C>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) | -0.144353 (Deleterious) |
| FATHMM raw prediction score | 0.0666 (Tolerated) |
| Deleterious probability by DeFine | 0.1004 (Neutral) |
| Entrez Gene ID | 1730 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIAPH2 (GeneCards) |
| Number of variants in DIAPH2 in this database | 9 (view all the variants) |
| Full name | diaphanous related formin 2 |
| Band | Xq21.33 |
| Other IDs | Vega: OTTHUMG00000022689 OMIM: 300108 HGNC: HGNC:2877 Ensembl: ENSG00000147202 |
| Other names | DIA, POF, DIA2, DRF2, POF2, POF2A |
| Summary | The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| 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; |