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Variant (rsID / SNP)

rs202139499

MYBPC3

rs202139499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,371,355. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYBPC3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:47371355
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
Allele change
Missense_Q208H

Associated conditions / phenotypes

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

Public references

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