RGD:15184947 Rat Genome Database

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Variant: RGD:15184947 -  Homo sapiens

RGD ID: 15184947
RS ID: rs201617819
ClinVar ID: CV738690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  AQP5-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 50,348,036
GRCh38 12 49,954,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000486.6:c.459C>T
NP_000477.1:p.Arg153=
NG_008913.1:g.8513C>T
NC_000012.12:g.49954253C>T
More... 		01/24/2020 non-coding transcript variant likely benign|uncertain significance ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic X-linked; none provided; Vasopressin-resistant diabetes insipidus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AQP2
Accession:NM_000486
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCH
VSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTP
ALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGL
EPDTDWEEREVRRRQSVELHSPQSLPRGTKA*

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

Gene Symbol:AQP5-AS1
Accession:NR_110591
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 RCV000908394 CLINVAR
  RCV001276975 CLINVAR
dbSNP (RS) rs201617819 CLINVAR
MedGen C0162283 CLINVAR
  C3661900 CLINVAR
NCBI Gene 101927318 CLINVAR
  AQP2 CLINVAR
OMIM 107777 CLINVAR
SNOMED CT 111395007 CLINVAR