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Variant (rsID / SNP)

rs869025485

MYL3

rs869025485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,901,063. 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
3:46901063
Cytoband
3p21.31
HGVS
NM_000258.3(MYL3):c.383G>A (p.Gly128Asp)
Allele change
Missense_G128D

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy

Public references

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