Variant (rsID / SNP)

rs55940927

rs55940927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCNT2. Location: chromosome 6, position 10,626,785. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GCNT2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:10626785
Cytoband: 6p24.2
HGVS: NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)
Allele change: Missense_R385H

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.