TCIRG1 - Gene browser

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

HCNC Approved Symbol: TCIRG1 (HGNC:11647)
Genomic Coordinates: 11:68,039,025 - 68,053,762 (11q13.2)
Synonyms: TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the TCIRG1 gene.

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

015
Patient count

Osteopetrosis: 7 (46.7%)
Patient Count: 7 (46.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (46.7%)
Failure to thrive: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Short stature: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Pancytopenia: 4 (26.7%)
Patient Count: 4 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (26.7%)
Macrocephaly: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)