RGD:12893697 Rat Genome Database

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Variant: RGD:12893697 -  Homo sapiens

RGD ID: 12893697
RS ID: rs1064793134
ClinVar ID: CV407140
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,185,262
GRCh38 7 44,145,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008847.2:g.57508G>A
NC_000007.14:g.44145663C>T
NC_000007.13:g.44185262C>T
NP_000153.1:p.Asp363Asn
More... 		01/22/2024 5 prime utr variant|missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:XM_024446707
Location:5UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354802
Location:5UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354800
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTNCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Gene Symbol:GCK
Accession:NM_001354801
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSDTGDRKQIYNILSTLGLRPSTTNCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHP
SFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_033508
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG
TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK
GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV
ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS
EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTNCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV
MRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_000162
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTNCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_033507
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL
GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI
DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ
NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE
ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTNCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE
DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354803
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRAGMGASLRPGTGPHPDTGDRKQIYNILSTLGLRPSTTNCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVM
RITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*
Variant Samples
Additional References at PubMed
PMID:19790256   PMID:25741868   PMID:26467025   PMID:27269892   PMID:29510678   PMID:30257192   PMID:31197960   PMID:32041611   PMID:32375122   PMID:33129248   PMID:36257325  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000479890 CLINVAR
  RCV002431386 CLINVAR
  RCV003493592 CLINVAR
dbSNP (RS) rs1064793134 CLINVAR
MedGen C0342276 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR