RGD:152056395 Rat Genome Database

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Variant: RGD:152056395 -  Homo sapiens

RGD ID: 152056395
RS ID: rs539928673
ClinVar ID: CV1649584
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVP  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 3,063,818
GRCh38 20 3,083,172
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000490.5:c.127C>G
LRG_715:g.6553C>G
NG_008663.1:g.6553C>G
NC_000020.11:g.3083172G>C
More... 		04/25/2022 missense variant benign|likely benign Diabetes insipidus cranial type; Diabetes Insipidus, Neurogenic; DIABETES INSIPIDUS, PRIMARY CENTRAL; Hereditary central diabetes insipidus; none provided; 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: P to A (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLACGPGGKGRCFGPSICCADELGCFVGTAEALRCQEENY
LPSPCQSGQKACGSGGRCAAFGVCCNDESCVTEPECREGFHRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQ
PDAY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002127833 CLINVAR
  RCV002486942 CLINVAR
dbSNP (RS) rs539928673 CLINVAR
MedGen C0342394 CLINVAR
  C3661900 CLINVAR
NCBI Gene AVP CLINVAR
OMIM 125700 CLINVAR
  192340 CLINVAR
SNOMED CT 45369008 CLINVAR