Overview

Variant ID 10069
Entrez Gene ID 55166
Gene CENPQ (GeneCards)
Location hg19 6:49451298-49451298
hg38 6:49483585-49483585
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000006.11:g.49451298 G>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 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.408
CADD Raw score (version 1.3) -0.156151 (Deleterious)
FATHMM raw prediction score 0.051 (Tolerated)
Deleterious probability by DeFine 0.1513 (Neutral)
Entrez Gene ID 55166 (NCBI Gene)
Official Gene Symbol CENPQ (GeneCards)
Number of variants in CENPQ in this database 3 (view all the variants)
Full name centromere protein Q
Band 6p12.3
Other IDs Vega: OTTHUMG00000014815
OMIM: 611506
HGNC: HGNC:21347
Ensembl: ENSG00000031691
Other names CENP-Q, C6orf139
Summary CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

Individual #1

Individual ID 29217584.17 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

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;