Variant (rsID / SNP)
rs143978652
rs143978652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,862,646. 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
- 14:23862646
- Cytoband
- 14q11.2
- HGVS
- NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
- Allele change
- Missense_A1004S
Associated conditions / phenotypes
Dilated cardiomyopathy 1EE|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy 14|Sudden cardiac death|Hypertrophic cardiomyopathy 14|Cardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Wolff-Parkinson-White pattern|Cardiomyopathy|Primary dilated cardiomyopathy|Ventricular tachycardia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.