Overview

Variant ID 19795
Entrez Gene ID 58488
Gene PCTP (GeneCards)
Location hg19 17:53895207-53895207
hg38 17:55817846-55817846
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000017.10:g.53895207 C>T (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 81195210

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.2417
CADD Raw score (version 1.3) 0.457061 (Deleterious)
FATHMM raw prediction score 0.19399 (Tolerated)
Deleterious probability by DeFine 0.6807 (Deleterious)
Entrez Gene ID 58488 (NCBI Gene)
Official Gene Symbol PCTP (GeneCards)
Number of variants in PCTP in this database 5 (view all the variants)
Full name phosphatidylcholine transfer protein
Band 17q22
Other IDs Vega: OTTHUMG00000177859
OMIM: 606055
HGNC: HGNC:8752
Ensembl: ENSG00000141179
Other names PC-TP, STARD2
Summary None

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;