RGD:11622603 Rat Genome Database

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Variant: RGD:11622603 -  Homo sapiens

RGD ID: 11622603
RS ID: rs1077520
ClinVar ID: CV331613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  AQP5-AS1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 50,352,116
GRCh38 12 49,958,333
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_717t1:c.*2725A>C
LRG_717:g.12593A>C
NG_008913.1:g.12593A>C
NC_000012.12:g.49958333A>C
More... 		01/12/2018 3 prime utr variant benign Diabetes insipidus, nephrogenic, 2, autosomal; Nephrogenic Diabetes Insipidus, Type II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AQP2
Accession:NM_000486
Location:3UTRS;EXON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362238 CLINVAR
dbSNP (RS) rs1077520 CLINVAR
MedGen C1563706 CLINVAR
NCBI Gene 101927318 CLINVAR
  AQP2 CLINVAR
OMIM 107777 CLINVAR
  125800 CLINVAR