Full data view for gene AQP2

Information The variants shown are described using the NM_000486.5 transcript reference sequence.

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

Effect     

Exon     

AscendingDNA change (cDNA)     

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.298G>T r.(?) p.(Gly100*) Both (homozygous) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 5 affected individuals in 4 sibships and heterozygous in their parents. DNA SEQ NDI-AQP2 Hochberg et al. (1997) F - Arab-Bedouin Member of a 7-generation family with data on 5 affected individuals and their parents. Parents of proband are first cousins. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). 1 LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) Both (homozygous) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected individuals in 3 sibships and heterozygous in their parents. DNA SEQ NDI-AQP2 Hochberg et al. (1997) F - Arab-Bedouin Member of 7-generation consanguineous family with data on 3 affected individuals and their parents. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). 1 LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) Both (homozygous) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected siblings and heterozygous in their parents. DNA SSCA NDI-AQP2 Hochberg et al. (1997) - - Arab-Bedouin 7-generation family with 6 affected individuals (3 deceased). Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). 1 LOVD
Legend