Variant (rsID / SNP)

rs201907325

rs201907325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HRC, TRPM4. Location: chromosome 19, position 49,685,865. 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: 19:49685865
Cytoband: 19q13.33
HGVS: NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
Allele change: Silent

Associated conditions / phenotypes

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

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.