RGD:8561967 Rat Genome Database

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Variant: RGD:8561967 -  Homo sapiens

RGD ID: 8561967
RS ID: rs104894758
ClinVar ID: CV25890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVPR2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,171,273
GRCh38 X 153,905,819
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
NG_008687.1:g.5846T>G
NC_000023.11:g.153905819T>G
NC_000023.10:g.153171273T>G
NP_000045.1:p.Phe105Val
More...
04/07/2011 intron variant|missense variant pathogenic neonatal/infancy 1-9 / 1 000 000 Diabetes insipidus nephrogenic type 1; Nephrogenic Diabetes Insipidus, Type I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AVPR2
Accession:NM_001146151
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRVRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGGCSRG*

Gene Symbol:AVPR2
Accession:NM_000054
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRVRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCT
NPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTTASSSLAKDTSS*

Gene Symbol:AVPR2
Accession:NR_027419
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10770218  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011598 CLINVAR
dbSNP (RS) rs104894758 CLINVAR
MedGen C1563705 CLINVAR
NCBI Gene AVPR2 CLINVAR
OMIM 300538 CLINVAR
  304800 CLINVAR
OMIM Allele 300538.0017 CLINVAR