Variant (rsID / SNP)

rs138603244

rs138603244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM4. Location: chromosome 19, position 49,714,065. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRPM4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:49714065
Cytoband: 19q13.33
HGVS: NM_017636.4(TRPM4):c.3427A>G (p.Ser1143Gly)
Allele change: Missense_S607G

Associated conditions / phenotypes

Progressive familial heart block type IB|Cardiovascular phenotype

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.