RGD:405211531 Rat Genome Database

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Variant: RGD:405211531 -  Homo sapiens

RGD ID: 405211531
ClinVar ID: CV2966892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDX1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 28,494,653
GRCh38 13 27,920,516
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000209.4:c.378A>C
NG_008183.1:g.5486A>C
NC_000013.11:g.27920516A>C
NC_000013.10:g.28494653A>C
More... 		04/14/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PDX1
Accession:NM_000209
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPPPPPHPFPGALGALEQGSPPDISPYEVPPLADDPAVA
HLHHHLPAQLALPHPPAGPFPEGAEPGVLEEPNRVQLPFPWMKSTNAHAWKGQWAGGAYAAEPEENKRTRTAYTRAQLLE
LEKEFLFNKYISRPRRVELAVMLNLTERHIKIWFQNRRMKWKKEEDKKRGGGTAVGGGGVAEPEQDCAVTSGEELLALPP
PPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAPRRPQEPR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003679395 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PDX1 CLINVAR
OMIM 600733 CLINVAR