Variant (rsID / SNP)

rs730880940

rs730880940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,350,947. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYL2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:111350947
Cytoband: 12q24.11
HGVS: NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
Allele change: Missense_V119I

Associated conditions / phenotypes

Cardiomyopathy|Hypertrophic cardiomyopathy 10

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.