RGD:8602673 Rat Genome Database

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Variant: RGD:8602673 -  Homo sapiens

RGD ID: 8602673
RS ID: rs193922495
ClinVar ID: CV44360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  AQP5-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 50,348,447
GRCh38 12 49,954,664
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_717t1:c.560G>A
LRG_717:g.8924G>A
NG_008913.1:g.8924G>A
NC_000012.12:g.49954664G>A
More... 		10/09/2021 intron|intron variant|missense|missense variant likely pathogenic ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic X-linked; none provided; Vasopressin-resistant diabetes insipidus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AQP2
Accession:NM_000486
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCH
VSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTP
ALSIGFSVALGHLLGIHYTGCSMNPAHSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGL
EPDTDWEEREVRRRQSVELHSPQSLPRGTKA*

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

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

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

Variant Samples
Additional References at PubMed
PMID:7524315   PMID:16361827   PMID:18470935   PMID:20403973   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029345 CLINVAR
  RCV001852583 CLINVAR
dbSNP (RS) rs193922495 CLINVAR
MedGen C0162283 CLINVAR
  C3661900 CLINVAR
NCBI Gene 101927318 CLINVAR
  AQP2 CLINVAR
OMIM 107777 CLINVAR
SNOMED CT 111395007 CLINVAR