Overview

Variant ID 24716
Entrez Gene ID 3176
Gene HNMT (GeneCards)
Location hg19 2:139221830-139221830
hg38 2:138464260-138464260
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000002.11:g.139221830 T>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 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2951
CADD Raw score (version 1.3) 0.185152 (Deleterious)
FATHMM raw prediction score 0.09638 (Tolerated)
Deleterious probability by DeFine 0.0834 (Neutral)
Entrez Gene ID 3176 (NCBI Gene)
Official Gene Symbol HNMT (GeneCards)
Number of variants in HNMT in this database 9 (view all the variants)
Full name histamine N-methyltransferase
Band 2q22.1
Other IDs Vega: OTTHUMG00000131751
OMIM: 605238
HGNC: HGNC:5028
Ensembl: ENSG00000150540
Other names HMT, MRT51, HNMT-S1, HNMT-S2
Summary In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID