| Variant ID | 16001 |
|---|---|
| Entrez Gene ID | 8538 |
| Gene | BARX2 (GeneCards) |
| Location | hg19 11:129445195-129445195
hg38 11:129575300-129575300 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.129445195 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.310284 (Deleterious) |
| FATHMM raw prediction score | 0.06824 (Tolerated) |
| Deleterious probability by DeFine | 0.4145 (Neutral) |
| Entrez Gene ID | 8538 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BARX2 (GeneCards) |
| Number of variants in BARX2 in this database | 7 (view all the variants) |
| Full name | BARX homeobox 2 |
| Band | 11q24.3 |
| Other IDs | Vega: OTTHUMG00000165776 OMIM: 604823 HGNC: HGNC:956 Ensembl: ENSG00000043039 |
| Other names | None |
| Summary | This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008] |
| 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; |