RGD:11552534 Rat Genome Database

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Variant: RGD:11552534 -  Homo sapiens

RGD ID: 11552534
RS ID: rs61733029
ClinVar ID: CV254603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AQP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 50,344,652
GRCh38 12 49,950,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000486.5:c.39G>A
NM_000486.6:c.39G>A
NC_000012.12:g.49950869G>A
LRG_717t1:c.39G>A
More... 		12/05/2021 synonymous variant benign|likely benign ADH resistant diabetes insipidus; AllHighlyPenetrant; Diabetes insipidus nephrogenic X-linked; Diabetes insipidus, nephrogenic, 2, autosomal; Nephrogenic Diabetes Insipidus, Type II; 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: V to V (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCH
VSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTP
ALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGL
EPDTDWEEREVRRRQSVELHSPQSLPRGTKA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000254517 CLINVAR
  RCV000950443 CLINVAR
  RCV001111886 CLINVAR
  RCV001828134 CLINVAR
dbSNP (RS) rs61733029 CLINVAR
MedGen C0162283 CLINVAR
  C1563706 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene AQP2 CLINVAR
OMIM 107777 CLINVAR
  125800 CLINVAR
SNOMED CT 111395007 CLINVAR