Variant (rsID / SNP)
rs199905729
rs199905729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCG. Location: chromosome 13, position 23,869,555. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SGCGConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:23869555
- Cytoband
- 13q12.12
- HGVS
- NM_000231.3(SGCG):c.507G>T (p.Gly169=)
- Allele change
- Synonymous_G169G
Associated conditions / phenotypes
Severe autosomal recessive muscular dystrophy of childhood - North African type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.