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NM_000162.5(GCK):c.629T>A (p.Met210Lys) 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:
RCV000017521.34

Allele description [Variation Report for NM_000162.5(GCK):c.629T>A (p.Met210Lys)]

NM_000162.5(GCK):c.629T>A (p.Met210Lys)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.629T>A (p.Met210Lys)
Other names:
NM_000162.5(GCK):c.629T>A
HGVS:
  • NC_000007.14:g.44149810A>T
  • NG_008847.2:g.53361T>A
  • NM_000162.5:c.629T>AMANE SELECT
  • NM_001354800.1:c.629T>A
  • NM_033507.3:c.632T>A
  • NM_033508.3:c.626T>A
  • NP_000153.1:p.Met210Lys
  • NP_001341729.1:p.Met210Lys
  • NP_277042.1:p.Met211Lys
  • NP_277043.1:p.Met209Lys
  • LRG_1074t1:c.629T>A
  • LRG_1074t2:c.632T>A
  • LRG_1074:g.53361T>A
  • LRG_1074p1:p.Met210Lys
  • LRG_1074p2:p.Met211Lys
  • NC_000007.13:g.44189409A>T
  • NM_000162.3:c.629T>A
  • NM_000162.5:c.629T>A
  • P35557:p.Met210Lys
Protein change:
M209K; MET210LYS
Links:
UniProtKB: P35557#VAR_012351; OMIM: 138079.0010; dbSNP: rs80356654
NCBI 1000 Genomes Browser:
rs80356654
Molecular consequence:
  • NM_000162.5:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.632T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.626T>A - 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
SCV000040491GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Neonatal diabetes mellitus due to complete glucokinase deficiency.

Njølstad PR, Søvik O, Cuesta-Muñoz A, Bjørkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI.

N Engl J Med. 2001 May 24;344(21):1588-92. No abstract available.

PubMed [citation]
PMID:
11372010

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, SCV000040491.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Nov 4, 2023