RGD:12845988 Rat Genome Database

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Variant: RGD:12845988 -  Homo sapiens

RGD ID: 12845988
RS ID: rs1057521601
ClinVar ID: CV379685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 3,063,442
GRCh38 20 3,082,796
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000490.4:c.329G>A
LRG_715t1:c.329G>A
LRG_715:g.6929G>A
NG_008663.1:g.6929G>A
More... 		03/25/2022 missense variant likely pathogenic|uncertain risk allele|uncertain significance Diabetes insipidus cranial type; Diabetes Insipidus, Neurogenic; DIABETES INSIPIDUS, PRIMARY CENTRAL; Hereditary arginine vasopressin deficiency; 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: C to Y (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCADELGCFVGTAEALRCQEENY
LPSPCQSGQKACGSGGRCAAFGVCCNDESYVTEPECREGFHRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQ
PDAY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28008190  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000440799 CLINVAR
  RCV002051851 CLINVAR
  RCV003884524 CLINVAR
dbSNP (RS) rs1057521601 CLINVAR
MedGen C0011848 CLINVAR
  C0342394 CLINVAR
  C3661900 CLINVAR
NCBI Gene AVP CLINVAR
OMIM 125700 CLINVAR
  192340 CLINVAR
SNOMED CT 45369008 CLINVAR