rs104894756
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.720
GeneticVariation
BEFREE
Interestingly, we show in this report that upon heteromer formation with SCTR, R137H , a NDI -causing AVPR2 mutant that is defective in trafficking to cell surface, can functionally be rescued.
27649563
2016
rs104894760
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Partial nephrogenic diabetes insipidus
0.010
GeneticVariation
BEFREE
Genetic testing for the nephronophthisis came back negative but was positive for a missense mutation in the AVPR2 gene (p.Arg104Cys ) associated with partial nephrogenic diabetes insipidus .He was started on daily desmopressin.
27350623
2017
rs104894760
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephronophthisis
0.010
GeneticVariation
BEFREE
Genetic testing for the nephronophthisis came back negative but was positive for a missense mutation in the AVPR2 gene (p.Arg104Cys ) associated with partial nephrogenic diabetes insipidus.He was started on daily desmopressin.
27350623
2017
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Overgrowth
C
0.700
GeneticVariation
CLINVAR
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
26131744
2015
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
26131744
2015
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Overgrowth
C
0.700
GeneticVariation
CLINVAR
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
26077742
2015
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
26077742
2015
rs104894753
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Congenital Nephrogenic Diabetes Insipidus
0.010
GeneticVariation
BEFREE
The AVPR2 gene R337X mutation was also a genetic etiology of CNDI patients in the mainland of China.
24622440
2014
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Overgrowth
C
0.700
GeneticVariation
CLINVAR
Congenital nephrogenic diabetes insipidus: the current state of affairs.
22427315
2012
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Congenital nephrogenic diabetes insipidus: the current state of affairs.
22427315
2012
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
22386940
2012
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Overgrowth
C
0.700
GeneticVariation
CLINVAR
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
22386940
2012
rs104894761
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Syndrome of Inappropriate Antidiuresis
0.810
GeneticVariation
BEFREE
We report on a family affected by NSIAD with the known mutation R137C , an arginine to cysteine substitution at amino acid 137.
22154540
2012
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.
20459358
2010
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Overgrowth
C
0.700
GeneticVariation
CLINVAR
Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.
20459358
2010
rs104894761
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Hyponatraemic
0.010
GeneticVariation
BEFREE
Mother and child were found to have the previously characterised activating mutation (p.Arg137Cys ) of the arginine vasopressin receptor type 2 gene (AVPR2), but had measurable levels of AVP when hyponatraemic .
19542240
2009
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Long-term growth of children with nephrogenic diabetes insipidus.
18584216
2008
rs1557100594
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Overgrowth
C
0.700
GeneticVariation
CLINVAR
Long-term growth of children with nephrogenic diabetes insipidus.
18584216
2008
rs104894756
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.720
GeneticVariation
UNIPROT
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16845277
2006
rs104894748
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.710
GeneticVariation
UNIPROT
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16845277
2006
rs104894754
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.710
GeneticVariation
UNIPROT
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16845277
2006
rs104894755
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.710
GeneticVariation
UNIPROT
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16845277
2006
rs104894747
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.700
GeneticVariation
UNIPROT
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16845277
2006
rs104894749
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.700
GeneticVariation
UNIPROT
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16845277
2006
rs104894750
×
Entrez Id:
554
Gene Symbol:
AVPR2
AVPR2
Nephrogenic Diabetes Insipidus, Type I
0.700
GeneticVariation
UNIPROT
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
16845277
2006