DNMT3A - Gene browser

DNMT3A

DNA methyltransferase 3 alpha

HCNC Approved Symbol: DNMT3A (HGNC:2978)
Genomic Coordinates: 2:25,227,874 - 25,342,590 (2p23.3)
Synonyms
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the DNMT3A gene.

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

012
Patient count

Intellectual disability: 8 (66.7%)
Patient Count: 8 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
8 (66.7%)
Tall stature: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Scoliosis: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Macrocephaly: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Flat feet: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)