Global Variome shared LOVD
COL5A1 (collagen type V alpha 1 chain)
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Curator:
Raymond Dalgleish
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Phenotype #0000353416
Individual ID
00468264
Associated disease
?
Diagnosis/Initial
congenital cardiac laterality defect
Diagnosis/Definite
-
Phenotype details
see paper; ..., dextro-transposition great arteries, pulmonary stenosis, left superior vena cava connecting to the coronary sinus; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries
Inheritance
Di-genic
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Tumor/MSI
-
Diagnosis/Criteria
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2025-11-07 15:53:55 +01:00 (CET)
Date last edited
N/A
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