Variant (rsID / SNP)

rs730880162

rs730880162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,900,999. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYL3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:46900999
Cytoband: 3p21.31
HGVS: NM_000258.3(MYL3):c.447G>A (p.Met149Ile)
Allele change: Missense_M149I

Associated conditions / phenotypes

Primary familial 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.