| Variant ID | 5573 |
|---|---|
| Entrez Gene ID | 1857 |
| Gene | DVL3 (GeneCards) |
| Location | hg19 3:183889281-183889281
hg38 3:184171493-184171493 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.183889281 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 | 1.1077 |
| CADD Raw score (version 1.3) | 0.808617 (Deleterious) |
| FATHMM raw prediction score | 0.41567 (Tolerated) |
| Deleterious probability by DeFine | 0.7941 (Deleterious) |
| Entrez Gene ID | 1857 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DVL3 (GeneCards) |
| Number of variants in DVL3 in this database | 2 (view all the variants) |
| Full name | dishevelled segment polarity protein 3 |
| Band | 3q27.1 |
| Other IDs | Vega: OTTHUMG00000156841 OMIM: 601368 HGNC: HGNC:3087 Ensembl: ENSG00000161202 |
| Other names | DRS3 |
| Summary | This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |