Full data view for gene AVP

Information The variants shown are described using the NM_000490.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg38)     

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+?/+ 2 c.322G>T - r.(?) p.(Glu108*) Unknown g.3082977C>A - Perrotta et al. (2015) AVP_000062 - De novo mutation; not found in the parents or unaffected family members; not found in 400 control chromosomes. DNA SEQ NDI-AVP Perrotta et al. (2015) F - - One of 9 idiopathic CDI patients tested for mutations in AVP and WFS1 genes. 1 LOVD
+?/+ 2 c.322G>T - r.(?) p.(Glu108*) Unknown g.3082977C>A - de Fost et al. (2011) AVP_000062 - Variant in mother and son. DNA SEQ NDI-AVP de Fost et al. (2011) F (The Netherlands) - Mother and son. 1 LOVD
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