Variant (rsID / SNP)
rs200633475
rs200633475 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM4. Location: chromosome 19, position 49,684,697. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TRPM4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:49684697
- Cytoband
- 19q13.33
- HGVS
- NM_017636.4(TRPM4):c.1242T>C (p.Phe414=)
- 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.