rs200777769 Rat Genome Database

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Variant: rs200777769 -  Homo sapiens

RGD ID: 28867542
RS ID: rs200777769
ClinVar ID: CV869983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 50,344,598
GRCh38 12 49,950,815
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_717:g.5075C>T
NM_000486.6:c.-16C>T
NG_008913.1:g.5075C>T
NC_000012.12:g.49950815C>T
More...
01/13/2018 5 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001111884 CLINVAR
dbSNP (RS) rs200777769 CLINVAR
MedGen C1563706 CLINVAR
NCBI Gene AQP2 CLINVAR
OMIM 107777 CLINVAR
  125800 CLINVAR