RGD:329389053 Rat Genome Database

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Variant: RGD:329389053 -  Homo sapiens

RGD ID: 329389053
ClinVar ID: CV2469730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  AQP5-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 50,348,076
GRCh38 12 49,954,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_717t1:c.499T>C
NM_000486.6:c.499T>C
LRG_717:g.8553T>C
NG_008913.1:g.8553T>C
More... 		03/06/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AQP2
Accession:NM_000486
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCH
VSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTP
ALSIGFPVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGL
EPDTDWEEREVRRRQSVELHSPQSLPRGTKA*

Gene Symbol:AQP5-AS1
Accession:NR_110590
Location:EXON;NON-CODING

Gene Symbol:AQP5-AS1
Accession:NR_110589
Location:INTRON;NON-CODING

Gene Symbol:AQP5-AS1
Accession:NR_110591
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003216089 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AQP2 CLINVAR
  AQP5-AS1 CLINVAR
OMIM 107777 CLINVAR