| Variant ID | 21027 |
|---|---|
| Entrez Gene ID | 30846 |
| Gene | EHD2 (GeneCards) |
| Location | hg19 19:48226115-48226115
hg38 19:47722858-47722858 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.48226115 A>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0175 |
| CADD Raw score (version 1.3) | -0.38754 (Deleterious) |
| FATHMM raw prediction score | 0.21579 (Tolerated) |
| Deleterious probability by DeFine | 0.215 (Neutral) |
| Entrez Gene ID | 30846 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EHD2 (GeneCards) |
| Number of variants in EHD2 in this database | 1 (view all the variants) |
| Full name | EH domain containing 2 |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183266 OMIM: 605890 HGNC: HGNC:3243 Ensembl: ENSG00000024422 |
| Other names | PAST2 |
| Summary | This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |