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Variant (rsID / SNP)

rs139794067

MYL3

rs139794067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,902,303. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYL3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:46902303
Cytoband
3p21.31
HGVS
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
Allele change
Missense_A57G

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 8|Cardiomyopathy

Public references

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