Variant (rsID / SNP)

rs56141211

rs56141211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCNT2. Location: chromosome 6, position 10,626,680. Clinical significance in the table: Pathogenic.

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Reference-table entries

GCNT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:10626680
Cytoband: 6p24.2
HGVS: NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu)
Allele change: Missense_G350E

Associated conditions / phenotypes

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.