GNPNAT1 - Gene browser

GNPNAT1

glucosamine-phosphate N-acetyltransferase 1

HCNC Approved Symbol: GNPNAT1 (HGNC:19980)
Genomic Coordinates: 14:52,775,193 - 52,791,607 (14q22.1)
Synonyms: Gpnat1, FLJ10607
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the GNPNAT1 gene.

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

01
Patient count

Anterior beaking of thoracic vertebrae: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Anteverted nares: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Brachycephaly: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Bronchomalacia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Coarse facial features: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)