Overview

Variant ID 12932
Entrez Gene ID 89882
Gene TPD52L3 (GeneCards)
Location hg19 9:6352953-6352953
hg38 9:6352953-6352953
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000009.11:g.6352953 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 141213431

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0148
CADD Raw score (version 1.3) 0.023358 (Deleterious)
FATHMM raw prediction score 0.12725 (Tolerated)
Deleterious probability by DeFine 0.2387 (Neutral)
Entrez Gene ID 89882 (NCBI Gene)
Official Gene Symbol TPD52L3 (GeneCards)
Number of variants in TPD52L3 in this database 1 (view all the variants)
Full name tumor protein D52 like 3
Band 9p24.1
Other IDs Vega: OTTHUMG00000019518
OMIM: 617567
HGNC: HGNC:23382
Ensembl: ENSG00000170777
Other names D55, hD55, NYDSP25
Summary This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

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;