RGD:11651814 Rat Genome Database

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Variant: RGD:11651814 -  Homo sapiens

RGD ID: 11651814
RS ID: rs886049547
ClinVar ID: CV317511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  AQP5-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 50,350,279
GRCh38 12 49,956,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_717t1:c.*888G>T
LRG_717:g.10756G>T
NG_008913.1:g.10756G>T
NC_000012.12:g.49956496G>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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_110589
Location:INTRON;NON-CODING

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301293 CLINVAR
dbSNP (RS) rs886049547 CLINVAR
MedGen C1563706 CLINVAR
NCBI Gene 101927318 CLINVAR
  AQP2 CLINVAR
OMIM 107777 CLINVAR
  125800 CLINVAR