RGD:155968250 Rat Genome Database

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Variant: RGD:155968250 -  Homo sapiens

RGD ID: 155968250
ClinVar ID: CV2312811
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KDELR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 48,892,878
GRCh38 19 48,389,621
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006801.3:c.283G>A
NC_000019.10:g.48389621C>T
NC_000019.9:g.48892878C>T
NM_006801.2:c.283G>A
More... 		11/10/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KDELR1
Accession:NM_006801
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLFRFLGDLSHLLAIILLLLKIWKSRSCAGISGKSQVLFAVVFTARYLDLFTNYISLYNTCMKVVYIACSFTTVWLIYS
KFKATYDGNHDTFRMEFLVVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRT
LYLFNWIWRYHFEGFFDLIAIVAGLVQTVLYCDFFYLYITKVLKGKKLSLPA*

Gene Symbol:KDELR1
Accession:XM_047438095
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTGGHRQPGTPRRLAGRRQEAQNPGISGKSQVLFAVVFTARYLDLFTNYISLYNTCMKVVYIACSFTTVWLIYSKFKAT
YDGNHDTFRMEFLVVPTAILAFLVNHDFTPLEILWTFSIYLESVAILPQLFMVSKTGEAETITSHYLFALGVYRTLYLFN
WIWRYHFEGFFDLIAIVAGLVQTVLYCDFFYLYITKVLKGKKLSLPA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004171312 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KDELR1 CLINVAR
OMIM 131235 CLINVAR