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Variant (rsID / SNP)

rs34330111

MYH6

rs34330111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,856,793. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:23856793
Cytoband
14q11.2
HGVS
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)
Allele change
Missense_R1532L

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 14|Cardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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