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Variant (rsID / SNP)

rs397515990

MYBPC3

rs397515990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,356,633. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYBPC3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
Deletion
Chromosome / position
11:47356633
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.