Variant (rsID / SNP)

rs199474706

rs199474706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,900,983. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYL3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:46900983
Cytoband: 3p21.31
HGVS: NM_000258.3(MYL3):c.463C>G (p.His155Asp)
Allele change: Missense_H155D

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.