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Variant (rsID / SNP)

rs730882236

COG6

rs730882236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG6. Location: chromosome 13, position 40,273,614. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COG6Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:40273614
Cytoband
13q14.11
HGVS
NM_020751.3(COG6):c.1167-24A>G
Allele change
Silent

Associated conditions / phenotypes

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome|Hypohidrosis|Intellectual disability|COG6-related disorder|COG6-ongenital disorder of glycosylation

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.