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NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu) AND Permanent neonatal diabetes mellitus

Germline classification:
not provided (1 submission)
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:
RCV000020345.3

Allele description [Variation Report for NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)]

NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)

Gene:
KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)
HGVS:
  • NC_000011.10:g.17387989A>G
  • NG_012446.1:g.5671T>C
  • NM_000525.4:c.103T>CMANE SELECT
  • NM_001166290.2:c.-16-143T>C
  • NM_001377296.1:c.-17+29T>C
  • NM_001377297.1:c.-16-143T>C
  • NP_000516.3:p.Phe35Leu
  • NP_000516.3:p.Phe35Leu
  • NC_000011.9:g.17409536A>G
  • NM_000525.3:c.103T>C
Protein change:
F35L
Links:
dbSNP: rs193929333
NCBI 1000 Genomes Browser:
rs193929333
Molecular consequence:
  • NM_001166290.2:c.-16-143T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377296.1:c.-17+29T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377297.1:c.-16-143T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.4:c.103T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Synonyms:
Permanent diabetes mellitus of infancy
Identifiers:
MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040721GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Permanent Neonatal Diabetes Mellitus.

De León DD, Stanley CA.

2008 Feb 8 [updated 2016 Jul 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301620

Details of each submission

From GeneReviews, SCV000040721.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 8, 2022