rs149585781
This is a variant in the PNMT gene that changes a arginine to an histidine.
▶ClinVar annotation
Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMDR7); Cardiovascular phenotype; Hypertrophic cardiomyopathy 25 (CMH25); Primary familial hypertrophic cardiomyopathy (HCM); not specified
View on ClinVar →About PNMT
The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
View all PNMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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