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Variant (rsID / SNP)

rs104893749

MYL3

rs104893749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,900,985. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYL3Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:46900985
Cytoband
3p21.31
HGVS
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
Allele change
Missense_R154H

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 8|Cardiovascular phenotype|Cardiomyopathy, familial restrictive, 1|Hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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