Variant (rsID / SNP)

rs1064793448

rs1064793448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,900,989. 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: Deletion
Chromosome / position: 3:46900989
Cytoband: 3p21.31
HGVS: NM_000258.3(MYL3):c.457del (p.Leu153fs)

Associated conditions / phenotypes

Cardiomyopathy|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.