rs1077520 Rat Genome Database
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Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
Variant Details
Variant Transcripts
Variant Samples
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Variant: rs1077520 - Homo sapiens
RGD ID:
11622603
RS ID:
rs1077520
ClinVar ID:
CV331613
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
AQP2
AQP5-AS1
Reference Nucleotide:
A
Variant Nucleotide:
C
Position
Assembly
Chr
Position
GRCh37
12
50,352,116
GRCh38
12
49,958,333
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Summary View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_717t1:c.*2725A>C
LRG_717:g.12593A>C
NG_008913.1:g.12593A>C
NC_000012.12:g.49958333A>C
NC_000012.11:g.50352116A>C
NG_033883.1:g.1838A>C
NM_000486.5:c.*2725A>C
NM_000486.6:c.*2725A>C
More...
01/12/2018
3 prime utr variant
benign
Diabetes insipidus, nephrogenic, 2, autosomal; Nephrogenic Diabetes Insipidus, Type II; none provided
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV331613
Human
nephrogenic diabetes insipidus type 2
IAGP
8554872
ClinVar Annotator: match by term: Diabetes insipidus
more ...
ClinVar
PMID:25741868
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Disease Annotations
Click to see Annotation Summary View
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nephrogenic diabetes insipidus type 2
(IAGP)
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Variant Details
Variant Transcripts
Gene Symbol:
AQP2
Accession:
NM_000486
Location:
3UTRS;EXON
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
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ClinVar GRCh37
ClinVar GRCh38
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Additional References at PubMed
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PMID:
25741868
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV000362238
CLINVAR
RCV004706983
CLINVAR
dbSNP (RS)
rs1077520
CLINVAR
MedGen
C1563706
CLINVAR
C3661900
CLINVAR
NCBI Gene
101927318
CLINVAR
AQP2
CLINVAR
OMIM
107777
CLINVAR
125800
CLINVAR
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