Variant (rsID / SNP)
rs61742472
rs61742472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH6. Location: chromosome 14, position 23,871,683. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYH6Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23871683
- Cytoband
- 14q11.2
- HGVS
- NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)
- Allele change
- Synonymous_D377D
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 14|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
