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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040721	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040721

GeneReviews

no classification provided

not provided

unknown

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, Bean LJH, Gripp KW, 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Oct 8, 2022

ClinVar

Relating variation to medicine