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Variant (rsID / SNP)

rs145771389

TRPM4

rs145771389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM4. Location: chromosome 19, position 49,674,964. 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
19:49674964
Cytoband
19q13.33
HGVS
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys)
Allele change
Silent

Associated conditions / phenotypes

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.