Variant (rsID / SNP)

rs104894369

rs104894369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,352,091. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYL2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:111352091
Cytoband: 12q24.11
HGVS: NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)
Allele change: Missense_R58Q

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 10|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|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.