| Variant ID | 10420 |
|---|---|
| Entrez Gene ID | 7472 |
| Gene | WNT2 (GeneCards) |
| Location | hg19 7:116990112-116990112
hg38 7:117350058-117350058 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.116990112 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0113 |
| CADD Raw score (version 1.3) | 0.422532 (Deleterious) |
| FATHMM raw prediction score | 0.18086 (Tolerated) |
| Deleterious probability by DeFine | 0.2312 (Neutral) |
| Entrez Gene ID | 7472 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WNT2 (GeneCards) |
| Number of variants in WNT2 in this database | 1 (view all the variants) |
| Full name | Wnt family member 2 |
| Band | 7q31.2 |
| Other IDs | Vega: OTTHUMG00000023428 OMIM: 147870 HGNC: HGNC:12780 Ensembl: ENSG00000105989 |
| Other names | IRP, INT1L1 |
| Summary | This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |