Global Variome shared LOVD
CRYBA1 (crystallin, beta A1)
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Curators:
Lars Hansen
and
Johan den Dunnen
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Phenotype #0000046805
Individual ID
00060322
Associated disease
FH
Phenotype details
Hmz phenotype, 48yr old female, MI, CVD, stents, TC 483mg/dl, LDL-C 393mg/dlm TG 282mg/dl, poor response to statins. No family history or samples because patient is adopted
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Sarah Leigh
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2016-04-01 19:19:06 +02:00 (CEST)
Date last edited
N/A
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