Variant (rsID / SNP)
rs142992009
rs142992009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,868,065. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYH6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23868065
- Cytoband
- 14q11.2
- HGVS
- NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
- Allele change
- Missense_D588A
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Inborn genetic diseases|Hypertrophic cardiomyopathy 14|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.