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Gene Sample List
 
Please click on the Excel icon at the upper right to obtain an excel file of the detailed Clinical Data Elements (phenotypic characterizations) for these samples.
 
Records Return:  (14)
 
Catalog IDDescriptionAllele 1Allele 2Cell TypeSexAgeRaceAffected
CD000235,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR   Female42 YR  
CD000245,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR   Female28 YR  
CD000255,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR   Female17 YR  
GM03756DYSTROPHIA MYOTONICA 1; DM1500 B-LymphocyteMale44 YRWhiteYes
GM06160APPARENTLY HEALTHY INDIVIDUALWTWTB-LymphocyteMale25 YRWhiteNo
GM07441CYSTIC FIBROSIS; CF7T9TB-LymphocyteFemale20 YRBlack/African AmericanYes
GM08369HEMOPHILIA B; HEMBNo Mutation DetectedNo Mutation DetectedB-LymphocyteMale17 YRWhiteYes
GM13591CYSTIC FIBROSIS; CF5T9TB-LymphocyteFemale32 YRWhiteYes
GM16000COAGULATION FACTOR II; F2  B-LymphocyteFemale33 YRWhiteYes
GM16028COAGULATION FACTOR II; F2  B-LymphocyteFemale64 YRWhite 
GM207305,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR  B-LymphocyteFemale44 YR Unknown
GM207465,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR  B-LymphocyteFemale34 YR Yes
GM27171CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1  B-LymphocyteFemale43 YRWhiteYes
GM27393CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1  FibroblastFemale44 YRWhiteYes

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