RGD:156172099 Rat Genome Database

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Variant: RGD:156172099 -  Homo sapiens

RGD ID: 156172099
ClinVar ID: CV2133609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB23  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 57,055,366
GRCh38 6 57,190,568
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278666.2:c.607G>A
NM_001278667.2:c.607G>A
NM_001278668.2:c.607G>A
NM_016277.5:c.607G>A
More... 		09/01/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB23
Accession:NM_001278666
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSSQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_001278667
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSSQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_001278668
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSSQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_016277
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSSQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_183227
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSSQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NR_103822
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003005419 CLINVAR
MedGen C1275078 CLINVAR
NCBI Gene RAB23 CLINVAR
OMIM 606144 CLINVAR