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Variant (rsID / SNP)

rs172149856

HRCTRPM4

rs172149856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HRC, TRPM4. Location: chromosome 19, position 49,691,898. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HRCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:49691898
Cytoband
19q13.33
HGVS
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
Allele change
Missense_G46S

Associated conditions / phenotypes

Progressive familial heart block type IB|Brugada syndrome|Progressive familial heart block, type 1A

Public references

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