Variant (rsID / SNP)
rs139506719
rs139506719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,898,504. 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
- 14:23898504
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
- Allele change
- Synonymous_K397K
Associated conditions / phenotypes
MYH7-related skeletal myopathy|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy|Myosin storage myopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.