Variant (rsID / SNP)

rs199520642

rs199520642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOM1. Location: chromosome 18, position 3,187,487. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYOM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:3187487
Cytoband: 18p11.31
HGVS: NM_003803.4(MYOM1):c.920G>C (p.Arg307Pro)
Allele change: Missense_R307P

Associated conditions / phenotypes

Hypertrophic cardiomyopathy

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.