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KRIT1

KRIT1 ankyrin repeat containing

HCNC Approved Symbol
KRIT1 (HGNC:1573)
Genomic Coordinates
7:92,198,969 - 92,246,100 (7q21.2)
Synonyms
CAM, CCM1
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the KRIT1 gene.

Frequently observed phenotypes

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

Cavernous hemangioma
 2 (28.6%)
Seizures
 2 (28.6%)
Cerebral venous angioma
 2 (28.6%)
Cerebral hemorrhage
 
1 (14.3%)
Abnormality of the cerebral vasculature
 
1 (14.3%)
KRIT1 - Gene browser | 3billion