RGD:34894129 Rat Genome Database

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Variant: RGD:34894129 -  Homo sapiens

RGD ID: 34894129
RS ID: rs1234749777
ClinVar ID: CV905794
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 28,494,483
GRCh38 13 27,920,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000013.10:g.28494483G>A
NP_000200.1:p.Val70Met
NM_000209.4:c.208G>A
NG_008183.1:g.5316G>A
More... 		04/06/2022 missense variant uncertain significance Diabetes mellitus MODY type 4; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Maturity-onset diabetes of the young, type IV; MODY insulin promoter factor-1 related; MODY type 4; MODY, type IV; Pancreatic agenesis 1; Pancreatic agenesis, congenital; PANCREATIC HYPOPLASIA, CONGENITAL; Type 2 diabetes mellitus; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDX1
Accession:NM_000209
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPPPPPHPFPGALGALEQGSPPDISPYEMPPLADDPAVA
HLHHHLPAQLALPHPPAGPFPEGAEPGVLEEPNRVQLPFPWMKSTKAHAWKGQWAGGAYAAEPEENKRTRTAYTRAQLLE
LEKEFLFNKYISRPRRVELAVMLNLTERHIKIWFQNRRMKWKKEEDKKRGGGTAVGGGGVAEPEQDCAVTSGEELLALPP
PPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAPRRPQEPR*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001174444 CLINVAR
  RCV003227922 CLINVAR
dbSNP (RS) rs1234749777 CLINVAR
MedGen C1833382 CLINVAR
  C3888631 CLINVAR
NCBI Gene PDX1 CLINVAR
OMIM 125853 CLINVAR
  260370 CLINVAR
  600733 CLINVAR
  606392 CLINVAR
SNOMED CT 44054006 CLINVAR