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GCNT2

glucosaminyl (N-acetyl) transferase 2 (I blood group)

HCNC Approved Symbol
GCNT2 (HGNC:4204)
Genomic Coordinates
6:10,521,351 - 10,629,368 (6p24.3-p24.2)
Synonyms
IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3, NACGT1, II, GCNT5, CCAT
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the GCNT2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Cataract, congenital
 1 (100.0%)
Microcephaly
 1 (100.0%)
Microphthalmia, bilateral
 1 (100.0%)
Nystagmus
 1 (100.0%)
Squint eyes
 1 (100.0%)
GCNT2 - Gene browser | 3billion