TRPV4 - Gene browser

TRPV4

transient receptor potential cation channel subfamily V member 4

HCNC Approved Symbol: TRPV4 (HGNC:18083)
Genomic Coordinates: 12:109,783,087 - 109,833,398 (12q24.11)
Synonyms: OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C
Disease Associations: This gene is associated with the following 11 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the TRPV4 gene.

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

014
Patient count

Bilateral clubfoot: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Exaggerated lumbar lordosis: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Kyphoscoliosis: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Short-trunked dwarfism: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Scoliosis: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)