Full data view for gene AVP

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

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Panel size     

Owner     
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Paternal (confirmed) g.3084619G>A g.280C>T in M11166.1 Heppner et al. (1998) AVP_000009 - - DNA SEQ NDI-AVP Heppner et al. (1998) M - German Member of a 3-generation family with data on 7 individuals (3 affected, 4 unaffected). 1 LOVD
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Unknown g.3084619G>A g.280C>T in M11166.1 Rittig et al. (1996) AVP_000009 - Mutation found in 2-of-2 affected, 0-of=0 unaffected individuals. DNA SEQ NDI-AVP Rittig et al. (1996) - - American - 1 LOVD
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Unknown g.3084619G>A g.279G>A in M11166.1 Rittig et al. (1996) AVP_000009 - Mutation found in 1-of-1 affected, 0-of-1 unaffecterd individuals. DNA SEQ NDI-AVP Rittig et al. (1996) - - American - 1 LOVD
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Unknown g.3084619G>A g.280C>T in M11166.1 Christensen et al. (2004) AVP_000009 - Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. DNA SEQ NDI-AVP Christensen et al. (2004) - New Zealand Caucasian Family history but no pedigree; data on one affected individual. 1 LOVD
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Unknown g.3084619G>A g.280C>T in M11166.1 Repaske et al. (1997) AVP_000009 - - DNA SEQ NDI-AVP Repaske et al. (1997) F USA - Member of 4-generation family with data on 9 individuals (5 affected, 4 unaffected). 1 LOVD
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Unknown g.3084619G>A g.280C>T in M11166.1 Repaske et al. (1997) AVP_000009 - - DNA SEQ NDI-AVP Repaske et al. (1997) - Lebanon - Member of 4-generation family with data on 14 individuals (8 affected, 6 unaffected). 1 LOVD
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Unknown g.3084619G>A - Chitturi et al. (2008) AVP_000009 - Found in 3-of-3 affected individuals. DNA SEQ NDI-AVP Chitturi et al. (2008) - - - Three affected individuals. 1 LOVD
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val) Unknown g.3084619G>A g.280C>T in M11166.1 Kanemitsu et al. (2002) AVP_000009 - Mutation found in 2-of-2 affected, 0-of-1 unaffected individuals DNA SEQ NDI-AVP Kanemitsu et al. (2002) M (Japan) - Member of 4-generation family with data on 6 individuals (3 affected,1 unaffected). 1 LOVD
Legend