Overview

Variant ID 27606
Entrez Gene ID 121256
Gene TMEM132D (GeneCards)
Location hg19 12:130040887-130040887
hg38 12:129556342-129556342
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000012.11:g.130040887 C>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 133851895

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.254
CADD Raw score (version 1.3) -0.016174 (Deleterious)
FATHMM raw prediction score 0.14307 (Tolerated)
Deleterious probability by DeFine 0.816 (Deleterious)
Entrez Gene ID 121256 (NCBI Gene)
Official Gene Symbol TMEM132D (GeneCards)
Number of variants in TMEM132D in this database 17 (view all the variants)
Full name transmembrane protein 132D
Band 12q24.33
Other IDs Vega: OTTHUMG00000168400
OMIM: 611257
HGNC: HGNC:29411
Ensembl: ENSG00000151952
Other names MOLT, PPP1R153
Summary None

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID