Full data view for gene AVP

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

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Allele     

DNA change (genomic) (hg38)     

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Frequency     

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Technique     

Disease     

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Owner     
+?/+ 2 c.286G>T - r.(?) p.(Gly96Cys) Unknown g.3083013C>A g.1883G>T in M11166.1 Rittig et al. (1996) AVP_000024 - Mutation found in 1-of-1 affected, 0-of-4 unaffecterd individuals. DNA SEQ NDI-AVP Rittig et al. (1996) - - American - 1 LOVD
+?/+ 2 c.286G>T - r.(?) p.(Gly96Cys) Unknown g.3083013C>A g.1883G>T in M11166.1 Christensen et al. (2004) AVP_000024 - Mutation found in 1 individual with no clinical studies, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. DNA SEQ NDI-AVP Christensen et al. (2004) - Austria Caucasian Member of 4-generation family with data on 1 individual with no clinical studies. 1 LOVD
+?/+ 2 c.286G>T - r.(?) p.(Gly96Cys) Paternal (confirmed) g.3083013C>A - Kim et al. (2014) AVP_000024 - Mutation found in 3-of-3 affected individuals. DNA SEQ NDI-AVP Kim et al. (2014) - - Korean Member of 4-generation familly with clinical data on 3 affected individuals. 1 LOVD
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