Variant (rsID / SNP)

rs3745301

rs3745301 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM4. Location: chromosome 19, position 49,699,866. Clinical significance in the table: Benign.

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Reference-table entries

TRPM4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:49699866
Cytoband: 19q13.33
HGVS: NM_017636.4(TRPM4):c.2380C>T (p.Leu794=)
Allele change: Synonymous_L258L

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.