Variant (rsID / SNP)
rs375882485
rs375882485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,249. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47364249
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
- Allele change
- Missense_R502W
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy 4|MYBPC3-Related Disorders|Cardiomyopathy|Left ventricular noncompaction 10|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.