Variant (rsID / SNP)
rs141764279
rs141764279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,887,607. 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
- 14:23887607
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
- Allele change
- Missense_N1327K
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|7 conditions|Ventricular fibrillation|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Myosin storage myopathy|MYH7-related skeletal myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.