RGD:15185734 Rat Genome Database

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Variant: RGD:15185734 -  Homo sapiens

RGD ID: 15185734
RS ID: rs368714271
ClinVar ID: CV722088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB23  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 57,072,496
GRCh38 6 57,207,698
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_183227.3:c.171T>C
NM_016277.5:c.171T>C
NG_012170.1:g.19583T>C
NP_001265596.1:p.Asp57=
More... 		03/04/2020 synonymous variant likely benign ACPS 2; ACPS II; Acrocephalopolysyndactyly type 2; Acrocephalopolysyndactyly Type II; Carpenter syndrome 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB23
Accession:NM_183227
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSGQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_001278668
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSGQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_001278667
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSGQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_016277
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSGQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

Gene Symbol:RAB23
Accession:NM_001278666
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEEFDAITKAYYR
GAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNE
VFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSGQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000886778 CLINVAR
  RCV001830940 CLINVAR
  RCV003968058 CLINVAR
dbSNP (RS) rs368714271 CLINVAR
MedGen C1275078 CLINVAR
  C4551510 CLINVAR
NCBI Gene RAB23 CLINVAR
OMIM 201000 CLINVAR
  606144 CLINVAR