RGD:8562980 Rat Genome Database

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Variant: RGD:8562980 -  Homo sapiens

RGD ID: 8562980
RS ID: rs121964889
ClinVar ID: CV27254
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVP  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 3,063,434
GRCh38 20 3,082,788
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_715t1:c.337G>T
LRG_715:g.6937G>T
NG_008663.1:g.6937G>T
NC_000020.11:g.3082788C>A
More...
03/02/2012 nonsense|stop-gain pathogenic childhood 1-9 / 100 000 Diabetes insipidus cranial type; Diabetes Insipidus, Neurogenic; DIABETES INSIPIDUS, PRIMARY CENTRAL; Hereditary central diabetes insipidus; Pituitary 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:AVP
Accession:NM_000490
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCADELGCFVGTAEALRCQEENY
LPSPCQSGQKACGSGGRCAAFGVCCNDESCVT*PECREGFHRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQ
PDAY*

Variant Samples
Additional References at PubMed
PMID:9580132  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012999 CLINVAR
dbSNP (RS) rs121964889 CLINVAR
MedGen C0342394 CLINVAR
NCBI Gene AVP CLINVAR
OMIM 125700 CLINVAR
  192340 CLINVAR
OMIM Allele 192340.0012 CLINVAR
SNOMED CT 45369008 CLINVAR