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Variant (rsID / SNP)

rs140799936

TRPM4

rs140799936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM4. Location: chromosome 19, position 49,703,651. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRPM4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:49703651
Cytoband
19q13.33
HGVS
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
Allele change
Nonsense_K378X

Associated conditions / phenotypes

TRPM4-Related Disorders|Cardiomyopathy|Progressive familial heart block type IB

Public references

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