Variant (rsID / SNP)

rs369790992

rs369790992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,360,110. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYBPC3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:47360110
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)
Allele change: Missense_V757M

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|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.