Variant (rsID / SNP)
rs142947482
rs142947482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEGF10. Location: chromosome 5, position 126,746,165. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MEGF10Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:126746165
- Cytoband
- 5q23.2
- HGVS
- NM_001256545.2(MEGF10):c.1002C>T (p.His334=)
- Allele change
- Synonymous_H334H
Associated conditions / phenotypes
MEGF10-Related Myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.