NM_000054.4(AVPR2):c.395C>A (p.Ala132Asp) AND Nephrogenic diabetes insipidus, X-linked

Clinical significance:Pathogenic (Last evaluated: Sep 17, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000011583.6

Allele description

NM_000054.4(AVPR2):c.395C>A (p.Ala132Asp)

Gene:
AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000054.4(AVPR2):c.395C>A (p.Ala132Asp)
HGVS:
  • NC_000023.11:g.153905901C>A
  • NG_008687.1:g.5928C>A
  • NM_000054.4:c.395C>A
  • NP_000045.1:p.Ala132Asp
  • NC_000023.10:g.153171355C>A
  • NR_027419.1:n.560-118C>A
  • P30518:p.Ala132Asp
Protein change:
A132D; ALA132ASP
Links:
UniProtKB: P30518#VAR_003527; OMIM: 300538.0002; dbSNP: rs104894747
NCBI 1000 Genomes Browser:
rs104894747
Molecular consequence:
  • NR_027419.1:n.560-118C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000054.4:c.395C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrogenic diabetes insipidus, X-linked (NDI)
Synonyms:
Nephrogenic Diabetes Insipidus, Type I
Identifiers:
MedGen: C1563705; Orphanet: 223; OMIM: 304800
Age of onset:
Infancy
Prevalence:
1-9 / 1 000 000 223

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031815OMIMno assertion criteria providedPathogenic
(Sep 17, 1992)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.

Rosenthal W, Seibold A, Antaramian A, Lonergan M, Arthus MF, Hendy GN, Birnbaumer M, Bichet DG.

Nature. 1992 Sep 17;359(6392):233-5.

PubMed [citation]
PMID:
1356229

Details of each submission

From OMIM, SCV000031815.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with X-linked nephrogenic diabetes insipidus (304800), Rosenthal et al. (1992) identified a 395C-A transversion in the AVPR2 gene, resulting in an ala132-to-asp (A132D) substitution in the third transmembrane domain of the protein. The substitution resulted in a change in the hydropathy profile of the receptor protein. The patient's brother did not have the defective gene; the mother had both the normal and the mutant allele.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2016

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