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This example shows findings from an assessment of the HTT gene sequence with the purpose of determining the number of CAG repeats in subjects with Huntington's Disease. In this example, the findings are generated using two different methodologies to report CAG repeat assessment in three different formats. The arbitrary allele identifier is shown in GFCOPYID. The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC. The unique identifier for the sequence used as the reference to identify the genetic variation in the result is shown in GFSEQID. The test method by which the examination was performed is shown in GFMETHOD.

Row 1:Shows the predicted number of CAG repeats for one allele of the HTT gene in the subject.
Row 2:Shows the predicted number of CAG repeats for the other allele of the HTT gene in the subject.
Row 3:Shows the number of CAG repeats one allele of the HTT gene in the subject.
Row 4:Shows the number of CAG repeats for the other allele of the HTT gene in the subject.
Row 5:Shows the nucleotide sequence for one allele of the HTT gene in the subject.
Row 6:Shows the nucleotide sequence for the other allele of the HTT gene in the subject.

gf.xpt

gf.xpt

RowSTUDYIDDOMAINUSUBJIDGFSEQGFREFIDGFTESTCDGFTESTGFTSTDTLGFORRESGFSTRESCGFSTRESNGFSYMGFSYMTYPGFGENLOCGFSEQIDGFCOPYIDGFSPECGFMETHODVISITNUMGFDTC
1ABC123GFHD01-1011789879VNTRVariable Number Tandem RepeatsPREDICTED NUMBER OF CAG REPEATS434343HTTGENE WITH PROTEIN PRODUCTc.52_54LRG_763t11gDNACAPILLARY ELECTROPHORESIS12017-05-22
2ABC123GFHD01-1012789879VNTRVariable Number Tandem RepeatsPREDICTED NUMBER OF CAG REPEATS252525HTTGENE WITH PROTEIN PRODUCTc.52_54LRG_763t12gDNACAPILLARY ELECTROPHORESIS12017-05-22
3ABC123GFHD01-1013679898VNTRVariable Number Tandem RepeatsNUMBER OF CAG REPEATS444444HTTGENE WITH PROTEIN PRODUCTc.52_54LRG_763t11gDNASEQUENCING12017-05-22
4ABC123GFHD01-1014679898VNTRVariable Number Tandem RepeatsNUMBER OF CAG REPEATS232323HTTGENE WITH PROTEIN PRODUCTc.52_54LRG_763t12gDNASEQUENCING12017-05-22
5ABC123GFHD01-1015679898VNTRVariable Number Tandem RepeatsNUCLEOTIDE SEQUENCECAG[44]CAACAG[2]CCGCCA[1]CCG[7]CCT[2]CAG[44]CAACAG[2]CCGCCA[1]CCG[7]CCT[2]
HTTGENE WITH PROTEIN PRODUCTc.52_153LRG_763t11gDNASEQUENCING12017-05-22
6ABC123GFHD01-1016679898VNTRVariable Number Tandem RepeatsNUCLEOTIDE SEQUENCECAG[23]CAACAG[2]CCGCCA[1]CCG[7]CCT[2]CAG[23]CAACAG[2]CCGCCA[1]CCG[7]CCT[2]
HTTGENE WITH PROTEIN PRODUCTc.52_153LRG_763t12gDNASEQUENCING12017-05-22
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