Variant (rsID / SNP)
rs397516201
rs397516201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,887,458. Clinical significance in the table: Pathogenic.
Reference-table entries
MYH7Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23887458
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
- Allele change
- Missense_T1377M
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|MYH7-Related Disorders|Cardiomyopathy|Hypertrophic cardiomyopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.