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Variant (rsID / SNP)

rs200162906

MYBPC3

rs200162906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,353,738. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYBPC3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:47353738
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)
Allele change
Synonymous_Q1233Q

Associated conditions / phenotypes

Cardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4

Public references

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