Variant (rsID / SNP)

rs397516398

rs397516398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,352,071. 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: 12:111352071
Cytoband: 12q24.11
HGVS: NM_000432.4(MYL2):c.193G>A (p.Glu65Lys)
Allele change: Missense_E65K

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.