Variant (rsID / SNP)

rs117342470

rs117342470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOM1. Location: chromosome 18, position 3,071,878. Clinical significance in the table: Benign.

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Reference-table entries

MYOM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:3071878
Cytoband: 18p11.31
HGVS: NM_003803.4(MYOM1):c.4718G>A (p.Arg1573Gln)
Allele change: Missense_R1573Q

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Cardiovascular phenotype

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.