TSHR - Gene browser

TSHR

thyroid stimulating hormone receptor

HCNC Approved Symbol: TSHR (HGNC:12373)
Genomic Coordinates: 14:80,955,621 - 81,146,306 (14q24-q31)
Synonyms: LGR3
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the TSHR gene.

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

014
Patient count

Hypothyroidism, congenital: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Hyperthyroidism: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Hypothyroidism: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Gait disturbance: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Hypokalemia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)