RGD:28872459 Rat Genome Database

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Variant: RGD:28872459 -  Homo sapiens

RGD ID: 28872459
RS ID: rs202091228
ClinVar ID: CV898123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,228,543
GRCh38 7 44,188,944
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000162.5:c.10G>A
NM_001354800.1:c.10G>A
NG_008847.2:g.14227G>A
NC_000007.14:g.44188944C>T
More... 		12/08/2023 missense variant likely benign|uncertain significance Diabetes mellitus MODY type 2; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Diabetes mellitus, type II, autosomal dominant; Hyperinsulinemic hypoglycemia familial 3; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; MODY glucokinase-related; MODY type 2; none provided; Permanent diabetes mellitus of infancy; Permanent neonatal diabetes mellitus 1; Type II diabetes mellitus
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_001354800
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDNRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Gene Symbol:GCK
Accession:NM_000162
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDNRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8325892   PMID:8433729   PMID:11942313   PMID:14517946   PMID:15928245   PMID:19790256   PMID:25741868   PMID:28492532   PMID:37008541  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001164411 CLINVAR
  RCV001164412 CLINVAR
  RCV001164413 CLINVAR
  RCV001164414 CLINVAR
  RCV002483920 CLINVAR
  RCV003480976 CLINVAR
  RCV003558733 CLINVAR
dbSNP (RS) rs202091228 CLINVAR
MedGen C0011860 CLINVAR
  C0342277 CLINVAR
  C1833104 CLINVAR
  C1865290 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
  CN239376 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  125853 CLINVAR
  138079 CLINVAR
  602485 CLINVAR
  606176 CLINVAR
SNOMED CT 44054006 CLINVAR