RGD:8591680 Rat Genome Database

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Variant: RGD:8591680 -  Homo sapiens

RGD ID: 8591680
RS ID: rs193922276
ClinVar ID: CV44857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 44,184,845
GRCh38 7 44,145,246
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000007.14:g.44145246G>A
NC_000007.13:g.44184845G>A
NP_000153.1:p.Leu430=
NM_001354803.2:c.322C>T
More... 		02/07/2024 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance adolescent|adulthood|childhood 1-5 / 10 000 AllHighlyPenetrant; Diabetes mellitus MODY type 2; Diabetes mellitus, type II, autosomal dominant; MODY glucokinase-related; MODY type 2; none provided

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:XM_024446707
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKA
CMLGQ*

Gene Symbol:GCK
Accession:NM_001354800
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 430
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Gene Symbol:GCK
Accession:NM_033508
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 429
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG
TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK
GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV
ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS
EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV
MRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354802
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Gene Symbol:GCK
Accession:NM_033507
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 431
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL
GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI
DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ
NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE
ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE
DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354803
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRAGMGASLRPGTGPHPDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVM
RITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_000162
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 430
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354801
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHP
SFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*
Variant Samples
Additional References at PubMed
PMID:19790256   PMID:25741868   PMID:26059258   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000501325 CLINVAR
  RCV000710138 CLINVAR
dbSNP (RS) rs193922276 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR