Overview

Variant ID 21997
Entrez Gene ID 53336
Gene CPXCR1 (GeneCards)
Location hg19 X:88273050-88273050
hg38 X:89018049-89018049
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000023.10:g.88273050 T>A (Genome Assembly: GRCh37)

Other information

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 155270560

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) 0.420315 (Deleterious)
FATHMM raw prediction score 0.08922 (Tolerated)
Deleterious probability by DeFine 0.1336 (Neutral)
Entrez Gene ID 53336 (NCBI Gene)
Official Gene Symbol CPXCR1 (GeneCards)
Number of variants in CPXCR1 in this database 4 (view all the variants)
Full name CPX chromosome region, candidate 1
Band Xq21.31
Other IDs Vega: OTTHUMG00000021950
HGNC: HGNC:2332
Ensembl: ENSG00000147183
Other names CT77
Summary This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

Individual #1

Individual ID 29217584.03 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;