Overview

Variant ID 6033
Entrez Gene ID 441027
Gene TMEM150C (GeneCards)
Location hg19 4:83489586-83489586
hg38 4:82568433-82568433
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.83489586 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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2577
CADD Raw score (version 1.3) -0.028778 (Deleterious)
FATHMM raw prediction score 0.08949 (Tolerated)
Deleterious probability by DeFine 0.1309 (Neutral)
Entrez Gene ID 441027 (NCBI Gene)
Official Gene Symbol TMEM150C (GeneCards)
Number of variants in TMEM150C in this database 3 (view all the variants)
Full name transmembrane protein 150C
Band 4q21.22
Other IDs Vega: OTTHUMG00000161083
OMIM: 617292
HGNC: HGNC:37263
Ensembl: ENSG00000249242
Other names TTN3
Summary This gene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting, mechanically activated currents in dorsal root ganglion neurons. Mechanically activated ion channels are sensors that are critical for hearing, touch, pain, and blood pressure regulation. [provided by RefSeq, Jul 2017]

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;