RGD:405812485 Rat Genome Database

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Variant: RGD:405812485 -  Homo sapiens

RGD ID: 405812485
ClinVar ID: CV3265225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KDELR2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 6,505,769
GRCh38 7 6,466,138
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001100603.2:c.352-2963T>G
NM_006854.4:c.537T>G
NC_000007.14:g.6466138A>C
NC_000007.13:g.6505769A>C
More... 		12/27/2023 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:KDELR2
Accession:NM_006854
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYL
KFKATYDGNHDTFRVEFLVVPVGGLSFLVNHDFSPLEILWTFSIYLESVAILPQLFMISKTGEAETITTHYLFFLGLYRA
LYLVNWIWRFYFEGFFDLMAVVAGVVQTILYCDFFYLYITKVLKGKKLSLPA*

Gene Symbol:KDELR2
Accession:NM_001100603
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV004408966 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KDELR2 CLINVAR
OMIM 609024 CLINVAR