Variant (rsID / SNP)
rs145677314
rs145677314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,894,555. 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
- 14:23894555
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
- Allele change
- Missense_R787C
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|MYH7-related skeletal myopathy|Dilated cardiomyopathy 1S|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.