RGD:8591714 Rat Genome Database

Variant: RGD:8591714 - Homo sapiens

RGD ID:

8591714

RS ID:

rs193922306

ClinVar ID:

CV44892

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GCK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	44,189,605
GRCh38	7	44,150,006

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000007.14:g.44150006A>G NC_000007.13:g.44189605A>G NP_000153.1:p.Val181Ala NP_277042.1:p.Val182Ala More...	08/15/2022	missense\|missense variant	likely pathogenic\|likely risk allele\|uncertain significance	adolescent\|adulthood\|childhood	1-5 / 10 000	Diabetes mellitus MODY type 2; Diabetes mellitus, type II, autosomal dominant; Mason type diabetes; MODY glucokinase-related; MODY type 2; none provided

Disease Annotations Click to see Annotation Detail View

maturity-onset diabetes of the young (IAGP)

maturity-onset diabetes of the young type 2 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GCK
Accession:	NM_033507
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	182

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI DKGILLNWTKGFKASGAEGNNAVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_001354800
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	181

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID KGILLNWTKGFKASGAEGNNAVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Gene Symbol:	GCK
Accession:	NM_000162
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	181

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID KGILLNWTKGFKASGAEGNNAVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_033508
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	180

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK GILLNWTKGFKASGAEGNNAVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV MRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_001354803
Location:	INTRON

Gene Symbol:	GCK
Accession:	NM_001354802
Location:	INTRON

Gene Symbol:	GCK
Accession:	XM_024446707
Location:	INTRON

Gene Symbol:	GCK
Accession:	NM_001354801
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11508276	PMID:14517946	PMID:22101819	PMID:26467025	PMID:27269892	PMID:28492532	PMID:29510678	PMID:30257192	PMID:31197960	PMID:32375122	PMID:33129248	PMID:33477506

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000029891	CLINVAR
	RCV000992053	CLINVAR
	RCV002345256	CLINVAR
dbSNP (RS)	rs193922306	CLINVAR
MedGen	C0342276	CLINVAR
	C0342277	CLINVAR
	C3661900	CLINVAR
NCBI Gene	GCK	CLINVAR
OMIM	125851	CLINVAR
	138079	CLINVAR
	606391	CLINVAR
SNOMED CT	28453007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8591714 - Homo sapiens

Imported Disease Annotations - ClinVar