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Variant (rsID / SNP)

rs117688574

COG6

rs117688574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG6. Location: chromosome 13, position 40,256,342. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COG6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:40256342
Cytoband
13q14.11
HGVS
NM_020751.3(COG6):c.729C>T (p.Asp243=)
Allele change
Synonymous_D243D

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.