Full data view for gene SEMA3A

Information The variants shown are described using the NM_006080.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

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+/. 17 c.2062A>G - r.(?) p.(Thr688Ala) Unknown g.83590941T>C g.83961625T>C - - SEMA3A_000010 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - DNA SEQ - - KAL - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - 1 Johan den Dunnen
+/. 17 c.2062A>G - - p.Thr688Ala Unknown g.83590941T>C g.83961625T>C - - SEMA3A_000010 cDNA expression cloning in GN11 cells (embryonic) showed reduced SEMA3A signaling activity and in COS7 cells normal SEMA3A secretion PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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