RGD:13809628 Rat Genome Database

Variant: RGD:13809628 - Homo sapiens

RGD ID:

13809628

RS ID:

rs1185622190

ClinVar ID:

CV576978

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GCK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	44,184,823
GRCh38	7	44,145,224

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	Trait Synonyms
NG_008847.2:g.57947C>T NC_000007.14:g.44145224G>A NC_000007.13:g.44184823G>A NM_000162.3:c.1310C>T More...	01/28/2024	missense variant	likely pathogenic\|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; Type 2 diabetes mellitus; Type II diabetes mellitus

Disease Annotations Click to see Annotation Detail View

diabetes mellitus (IAGP)

permanent neonatal diabetes mellitus (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Type II diabetes mellitus (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GCK
Accession:	NM_001354800
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	437

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVA*

Gene Symbol:	GCK
Accession:	NM_001354803
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPRAGMGASLRPGTGPHPDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVM RITVGVDGSVYKLHPSFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	XM_024446707
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	57

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVACKKA CMLGQ*

Gene Symbol:	GCK
Accession:	NM_000162
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	437

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_033508
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	436

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV MRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_033507
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	438

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_001354801
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHP SFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_001354802
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	57

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEIIFIESEEGSGRGAALVSAVA*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:26467025	PMID:28323911	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000711765	CLINVAR
	RCV000764717	CLINVAR
	RCV003493719	CLINVAR
dbSNP (RS)	rs1185622190	CLINVAR
MedGen	C1833104	CLINVAR
	C3661900	CLINVAR
	C3888631	CLINVAR
NCBI Gene	GCK	CLINVAR
OMIM	125851	CLINVAR
	125853	CLINVAR
	138079	CLINVAR
	602485	CLINVAR
	606176	CLINVAR
SNOMED CT	44054006	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)

Variant: RGD:13809628 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13809628 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar