Variant (rsID / SNP)
rs201307101
rs201307101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,886,504. Clinical significance in the table: Likely benign.
Reference-table entries
MYH7Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23886504
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
- Allele change
- Missense_K1459N
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Wolff-Parkinson-White pattern|Cardiomyopathy|MYH7-related skeletal myopathy|Myosin storage myopathy|Congenital myopathy with fiber type disproportion
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.