Variant (rsID / SNP)

rs17637756

rs17637756 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCNT2. Location: chromosome 6, position 10,556,910. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GCNT2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:10556910
Cytoband: 6p24.3
HGVS: NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg)
Allele change: Silent

Associated conditions / phenotypes

I blood group system|Cataract 13 with adult I phenotype

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.