Variant (rsID / SNP)

rs114044193

rs114044193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG6. Location: chromosome 13, position 40,325,219. Clinical significance in the table: Benign.

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Reference-table entries

COG6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:40325219
Cytoband: 13q14.11
HGVS: NM_020751.3(COG6):c.1963C>A (p.Leu655Ile)
Allele change: Silent

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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