| Variant ID | 14910 |
|---|---|
| Entrez Gene ID | 159296 |
| Gene | NKX2-3 (GeneCards) |
| Location | hg19 10:101345629-101345629
hg38 10:99585872-99585872 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.101345629 T>C (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 | 0.299 |
| CADD Raw score (version 1.3) | 1.742633 (Deleterious) |
| FATHMM raw prediction score | 0.17544 (Tolerated) |
| Deleterious probability by DeFine | 0.4767 (Neutral) |
| Entrez Gene ID | 159296 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NKX2-3 (GeneCards) |
| Number of variants in NKX2-3 in this database | 1 (view all the variants) |
| Full name | NK2 homeobox 3 |
| Band | 10q24.2 |
| Other IDs | Vega: OTTHUMG00000018887 OMIM: 606727 HGNC: HGNC:7836 Ensembl: ENSG00000119919 |
| Other names | CSX3, NK2.3, NKX2C, NKX2.3, NKX4-3 |
| Summary | This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |