RGD:11610550 Rat Genome Database

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Variant: RGD:11610550 -  Homo sapiens

RGD ID: 11610550
RS ID: rs761776136
ClinVar ID: CV317494
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  AQP5-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 50,349,170
GRCh38 12 49,955,387
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_717t1:c.607-12G>T
LRG_717:g.9647G>T
NG_008913.1:g.9647G>T
NC_000012.12:g.49955387G>T
More...
10/27/2023 intron variant likely benign|uncertain significance Diabetes insipidus, nephrogenic, 2, autosomal; Nephrogenic Diabetes Insipidus, Type II; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AQP2
Accession:NM_000486
Location:INTRON

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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000382981 CLINVAR
  RCV003574738 CLINVAR
dbSNP (RS) rs761776136 CLINVAR
MedGen C1563706 CLINVAR
  C3661900 CLINVAR
NCBI Gene 101927318 CLINVAR
  AQP2 CLINVAR
OMIM 107777 CLINVAR
  125800 CLINVAR