Full data view for gene AVPR2

Information The variants shown are described using the NM_000054.4 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Published as     

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DB-ID     

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Variant remarks     

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Disease     

Reference     

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Remarks     

Panel size     

Owner     
./. 1 c.= r.(=) p.(=) Unknown g.= Variant not detected. Rocha et al. (1999) AVPR2_000001 - Variant not found on DGGE or sequence analysis. DNA SEQ NDI-AVPR2 Rocha et al. (1999) M - Portuguese/African/native Brazilian Member of a nuclear family with nephrogenic DI with data on 7 individuals (1 affected, 6 unaffected). 1 LOVD
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