Variant (rsID / SNP)
rs143345726
rs143345726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOZ2. Location: chromosome 4, position 120,085,477. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYOZ2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:120085477
- Cytoband
- 4q26
- HGVS
- NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
- Allele change
- Missense_L163S
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 16|Restrictive cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.