Variant (rsID / SNP)
rs3218716
rs3218716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,894,525. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYH7Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23894525
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
- Allele change
- Missense_A797T
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|7 conditions|Cardiovascular phenotype|Wolff-Parkinson-White pattern|6 conditions|Primary familial dilated cardiomyopathy|Cardiomyopathy|MYH7-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.