Variant (rsID / SNP)
rs138313730
rs138313730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYPN. Location: chromosome 10, position 69,959,320. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYPNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:69959320
- Cytoband
- 10q21.3
- HGVS
- NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Dilated cardiomyopathy 1KK|Cardiovascular phenotype|Primary familial dilated cardiomyopathy|Primary dilated cardiomyopathy|Heart failure|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.