Variant (rsID / SNP)
rs104894423
rs104894423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCG. Location: chromosome 13, position 23,898,591. Clinical significance in the table: Pathogenic.
Reference-table entries
SGCGPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:23898591
- Cytoband
- 13q12.12
- HGVS
- NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
- Allele change
- Missense_E263K
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.