Full data view for gene MSH2

Information The variants shown are described using the transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

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dbSNP ID     

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Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

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Reference     

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Geographic origin     

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+/+ - c.(?) r.(?) p.(?) Maternal (inferred) g.(?_47630206)_(47643569_47656880)dup - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA SEQ-NG-I 1 BrCa - F Syros - Greek no - 1 Despoina Kalfakakou
+/+ 1_7 c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA MLPA 1 - - M Drama - Greek no - 2 Despoina Kalfakakou
+/+ 1_7 c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA MLPA 0 - - M Drama - Greek no - 1 Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA SEQ 0 ColPol - M Pagoneri, Drama - Greek no - 3 Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA MLPA 1 BladCa - M Pagoneri, Drama - Greek no - 4 Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA MLPA 0 ColPol - M Drama - Greek no - 3 Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA MLPA 0 ColPol - M Drama - Greek no - 3 Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA MLPA 1 CRC, SIC - F Drama - Greek no - 4 Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) Parent #2 g.(?_47630206)_(47672797_47690169)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA MLPA 1 CRC, ENC - F Asia Minor Neos Marmaras, Halkidiki Greek no - 1 Despoina Kalfakakou
+/+ 1_7 c.(?) r.(?) p.(?) Paternal (inferred) g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - DNA SEQ-NG 1 OVCA - F Drama Athens Greek no - 1 Despoina Kalfakakou
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