Variant (rsID / SNP)

rs200132598

rs200132598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM4. Location: chromosome 19, position 49,675,366. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TRPM4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:49675366
Cytoband: 19q13.33
HGVS: NM_017636.4(TRPM4):c.1150+1G>A
Allele change: Silent

Associated conditions / phenotypes

Progressive familial heart block type IB

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.