Variant (rsID / SNP)

rs3729953

rs3729953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,358,997. Clinical significance in the table: Benign.

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Reference-table entries

MYBPC3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:47358997
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.2547C>T (p.Val849=)
Allele change: Synonymous_V849V

Associated conditions / phenotypes

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