Variant ID | 21985 |
---|---|
Entrez Gene ID | 150165 |
Gene | XKR3 (GeneCards) |
Location | hg19 22:17296665-17296665
hg38 22:16815775-16815775 |
Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000022.10:g.17296665 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 | -0.2808 |
CADD Raw score (version 1.3) | 0.424947 (Deleterious) |
FATHMM raw prediction score | 0.67595 (Tolerated) |
Deleterious probability by DeFine | 0.0833 (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; |