| Variant ID | 13907 |
|---|---|
| Entrez Gene ID | 6934 |
| Gene | TCF7L2 (GeneCards) |
| Location | hg19 10:115155117-115155117
hg38 10:113395358-113395358 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.115155117 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.107 |
| CADD Raw score (version 1.3) | 0.13209 (Deleterious) |
| FATHMM raw prediction score | 0.09835 (Tolerated) |
| Deleterious probability by DeFine | 0.3856 (Neutral) |
| Entrez Gene ID | 6934 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TCF7L2 (GeneCards) |
| Number of variants in TCF7L2 in this database | 7 (view all the variants) |
| Full name | transcription factor 7 like 2 |
| Band | 10q25.2-q25.3 |
| Other IDs | Vega: OTTHUMG00000019070 OMIM: 602228 HGNC: HGNC:11641 Ensembl: ENSG00000148737 |
| Other names | TCF4, TCF-4 |
| Summary | This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] |
| 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; |