rs570014544 Rat Genome Database

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Variant: rs570014544 -  Homo sapiens

RGD ID: 28910947
RS ID: rs570014544
ClinVar ID: CV869990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  AQP5-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 50,349,499
GRCh38 12 49,955,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_717t1:c.*108A>G
NM_000486.6:c.*108A>G
LRG_717:g.9976A>G
NG_008913.1:g.9976A>G
More...
01/13/2018 3 prime utr variant likely benign Diabetes insipidus, nephrogenic, 2, autosomal; Nephrogenic Diabetes Insipidus, Type II
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV869990Humannephrogenic diabetes insipidus type 2  IAGP 8554872ClinVar Annotator: match by term: Nephrogenic diabetes insipidus and autosomalClinVar 


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

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Database
Acc Id
Source(s)
ClinVar RCV001109689 CLINVAR
dbSNP (RS) rs570014544 CLINVAR
MedGen C1563706 CLINVAR
NCBI Gene 101927318 CLINVAR
  AQP2 CLINVAR
OMIM 107777 CLINVAR
  125800 CLINVAR