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Variant (rsID / SNP)

rs200224422

MYBPC3

rs200224422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,145. 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
11:47364145
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
Allele change
Synonymous_A536A

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Hypertrophic cardiomyopathy|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.