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Gene BrowserrightACVR1

ACVR1

activin A receptor type 1

HCNC Approved Symbol
ACVR1 (HGNC:171)
Genomic Coordinates
2:157,736,446 - 157,876,330 (2q24.1)
Synonyms
SKR1, ALK2, ACVR1A, ACVRLK2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

7Patients

Total 7 patients were diagnosed with a variant in the ACVR1 gene.

Frequently observed phenotypes (Top 5 only)

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

07
Patient count
Heterotopic ossification
 2(28.6%)
Patient Count: 2 (28.6%)

% of total patients presenting each phenotype is shown in parentheses.

 2(28.6%)
Multiple exostoses
 2(28.6%)
Patient Count: 2 (28.6%)

% of total patients presenting each phenotype is shown in parentheses.

 2(28.6%)
Ectopic ossification
 2(28.6%)
Patient Count: 2 (28.6%)

% of total patients presenting each phenotype is shown in parentheses.

 2(28.6%)
Abnormally broad great toes
 1(14.3%)
Patient Count: 1 (14.3%)

% of total patients presenting each phenotype is shown in parentheses.

 1(14.3%)
Abnormal jaw morphology
 1(14.3%)
Patient Count: 1 (14.3%)

% of total patients presenting each phenotype is shown in parentheses.

 1(14.3%)
No Results
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