Variant (rsID / SNP)
rs370228676
rs370228676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG6. Location: chromosome 13, position 40,268,759. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COG6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:40268759
- Cytoband
- 13q14.11
- HGVS
- NM_020751.3(COG6):c.1075-12A>C
- Allele change
- Silent
Associated conditions / phenotypes
COG6-ongenital disorder of glycosylation|COG6-ongenital disorder of glycosylation|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.