Variant (rsID / SNP)

rs188677538

rs188677538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOM1. Location: chromosome 18, position 3,135,692. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYOM1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:3135692
Cytoband: 18p11.31
HGVS: NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser)
Allele change: Missense_T688S

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.