RGD:153346320 Rat Genome Database

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Variant: RGD:153346320 -  Homo sapiens

RGD ID: 153346320
RS ID: rs2148570601
ClinVar ID: CV1691649
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 3,063,424
GRCh38 20 3,082,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_715:g.6947G>A
NG_008663.1:g.6947G>A
NC_000020.11:g.3082778C>T
NC_000020.10:g.3063424C>T
More... 		02/02/2022 missense variant pathogenic 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: C to Y (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCADELGCFVGTAEALRCQEENY
LPSPCQSGQKACGSGGRCAAFGVCCNDESCVTEPEYREGFHRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQ
PDAY*
Variant Samples
Additional References at PubMed
PMID:10085151   PMID:11017955   PMID:11443218   PMID:14673472   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002273132 CLINVAR
dbSNP (RS) rs2148570601 CLINVAR
MedGen C0342394 CLINVAR
NCBI Gene AVP CLINVAR
OMIM 125700 CLINVAR
  192340 CLINVAR
SNOMED CT 45369008 CLINVAR