MYBPC1 - Gene browser

MYBPC1

myosin binding protein C1

HCNC Approved Symbol: MYBPC1 (HGNC:7549)
Genomic Coordinates: 12:101,594,971 - 101,695,841 (12q23.2)
Synonyms: ssMyBP-C
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the MYBPC1 gene.

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

03
Patient count

Tremor: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Delayed cns myelination: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Facial dysmorphic features are mild: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Feeding difficulties in infancy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Gastroesophageal reflux: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)