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Variant (rsID / SNP)

rs199474814

MYL2

rs199474814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,348,898. 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
12:111348898
Cytoband
12q24.11
HGVS
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)
Allele change
Missense_G162R

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.