NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val) AND Permanent neonatal diabetes mellitus

Clinical significance:Pathogenic (Last evaluated: Jul 5, 2011)

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:
RCV000020354.1

Allele description [Variation Report for NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val)]

NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val)

Gene:
KCNJ11:potassium voltage-gated channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val)
HGVS:
  • NC_000011.10:g.17387548T>C
  • NG_012446.1:g.6112A>G
  • NM_000525.3:c.544A>G
  • NP_000516.3:p.Ile182Val
  • NC_000011.9:g.17409095T>C
Protein change:
I182V
Links:
dbSNP: 193929348
NCBI 1000 Genomes Browser:
rs193929348
Molecular consequence:
  • NM_000525.3:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Identifiers:
MedGen: C1833104; OMIM: 606176
Prevalence:
The estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040736GeneReviewsno assertion criteria providedpathologic
(Jul 5, 2011)
not providedcuration

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000040736.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 20, 2017