Variant (rsID / SNP)

rs193922382

rs193922382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,355,553. Clinical significance in the table: Likely benign.

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Reference-table entries

MYBPC3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:47355553
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
Allele change: Missense_R972W

Associated conditions / phenotypes

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.