Variant (rsID / SNP)
rs144731446
rs144731446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOT. Location: chromosome 5, position 137,222,648. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYOTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:137222648
- Cytoband
- 5q31.2
- HGVS
- NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
- Allele change
- Missense_A429G
Associated conditions / phenotypes
Spheroid body myopathy|Myofibrillar Myopathy, Dominant|Myofibrillar myopathy 3|Limb-Girdle Muscular Dystrophy, Dominant|Myofibrillar myopathy 3|Spheroid body myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.