Variant (rsID / SNP)

rs730880962

rs730880962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,899,915. 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: 3:46899915
Cytoband: 3p21.31
HGVS: NM_000258.3(MYL3):c.518T>A (p.Met173Lys)
Allele change: Missense_M173K

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.