| Variant ID | 21986 |
|---|---|
| Entrez Gene ID | 150165 |
| Gene | XKR3 (GeneCards) |
| Location | hg19 22:17301292-17301292
hg38 22:16820402-16820402 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.17301292 C>A (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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.016 |
| CADD Raw score (version 1.3) | 1.133259 (Deleterious) |
| FATHMM raw prediction score | 0.39829 (Tolerated) |
| Deleterious probability by DeFine | 0.0484 (Neutral) |
| Entrez Gene ID | 150165 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XKR3 (GeneCards) |
| Number of variants in XKR3 in this database | 2 (view all the variants) |
| Full name | XK related 3 |
| Band | 22q11.1 |
| Other IDs | Vega: OTTHUMG00000143726 OMIM: 611674 HGNC: HGNC:28778 Ensembl: ENSG00000172967 |
| Other names | XRG3, XTES |
| Summary | XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 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; |