Variant (rsID / SNP)
rs150104389
rs150104389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG7. Location: chromosome 16, position 23,444,860. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COG7Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 16:23444860
- Cytoband
- 16p12.2
- HGVS
- NM_153603.4(COG7):c.810+6del
Associated conditions / phenotypes
Congenital disorder of glycosylation|COG7 congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.