NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) AND Nephrogenic diabetes insipidus

Germline classification:: not provided (1 submission)
Last evaluated:: Oct 2, 2015
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000029343.2

Allele description [Variation Report for NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)]

NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)

Genes:

AQP5-AS1:AQP5 and AQP2 antisense RNA 2 [Gene - HGNC]
AQP2:aquaporin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)

HGVS:

NC_000012.12:g.49954233G>A
NG_008913.1:g.8493G>A
NM_000486.6:c.439G>AMANE SELECT
NP_000477.1:p.Ala147Thr
NP_000477.1:p.Ala147Thr
LRG_717t1:c.439G>A
LRG_717:g.8493G>A
LRG_717p1:p.Ala147Thr
NC_000012.11:g.50348016G>A
NM_000486.5:c.439G>A
NR_110590.1:n.372C>T
P41181:p.Ala147Thr

Protein change:

A147T; ALA147THR

Links:

UniProtKB: P41181#VAR_015246; OMIM: 107777.0006; dbSNP: rs104894334

NCBI 1000 Genomes Browser:

rs104894334

Molecular consequence:

NM_000486.6:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_110590.1:n.372C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Nephrogenic diabetes insipidus
Synonyms:: Vasopressin-resistant diabetes insipidus; ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic X-linked
Identifiers:: MONDO: MONDO:0016383; MedGen: C0162283; Human Phenotype Ontology: HP:0009806

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000051989	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	no classification provided	not provided	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000051989

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

no classification provided

not provided

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000051989.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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