Variant (rsID / SNP)
rs200303340
rs200303340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,884,630. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYH7Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23884630
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
- Allele change
- Missense_C1748Y
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Myosin storage myopathy|Dilated cardiomyopathy 1S|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.