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Variant (rsID / SNP)

rs199474813

MYL2

rs199474813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,348,980. 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
12:111348980
Cytoband
12q24.11
HGVS
NM_000432.4(MYL2):c.403-1G>C
Allele change
Silent

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 10|Cardiomyopathy|MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY

Public references

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