SMC3 - Gene browser

SMC3

structural maintenance of chromosomes 3

HCNC Approved Symbol: SMC3 (HGNC:2468)
Genomic Coordinates: 10:110,567,695 - 110,606,048 (10q25.2)
Synonyms: HCAP, BAM, SMC3L1, bamacan, CSPG6
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the SMC3 gene.

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

013
Patient count

Microcephaly: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Ptosis: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Myopia: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Low set ears: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Micrognathia: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)