Variant (rsID / SNP)

rs193922391

rs193922391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,899,903. 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: 3:46899903
Cytoband: 3p21.31
HGVS: NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
Allele change: Missense_E177G

Associated conditions / phenotypes

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