| Variant ID | 19362 |
|---|---|
| Entrez Gene ID | 79191 |
| Gene | IRX3 (GeneCards) |
| Location | hg19 16:54873537-54873537
hg38 16:54839625-54839625 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.54873537 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5888 |
| CADD Raw score (version 1.3) | -0.289916 (Deleterious) |
| FATHMM raw prediction score | 0.0477 (Tolerated) |
| Deleterious probability by DeFine | 0.3259 (Neutral) |
| Entrez Gene ID | 79191 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IRX3 (GeneCards) |
| Number of variants in IRX3 in this database | 6 (view all the variants) |
| Full name | iroquois homeobox 3 |
| Band | 16q12.2 |
| Other IDs | Vega: OTTHUMG00000133200 OMIM: 612985 HGNC: HGNC:14360 Ensembl: ENSG00000177508 |
| Other names | IRX-1, IRXB1 |
| Summary | IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009] |
| 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; |