HINT1 - Gene browser

HINT1

histidine triad nucleotide binding protein 1

HCNC Approved Symbol: HINT1 (HGNC:4912)
Genomic Coordinates: 5:131,159,027 - 131,165,256 (5q23.3)
Synonyms: PKCI-1, PRKCNH1, HINT
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the HINT1 gene.

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

09
Patient count

Distal muscle weakness: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Muscle cramps: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Tingling: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Absent achilles reflex: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Hypotrophy of the small hand muscles: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)