RGD:21073853 Rat Genome Database

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Variant: RGD:21073853 -  Homo sapiens

RGD ID: 21073853
RS ID: rs1603282342
ClinVar ID: CV792159
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVPR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,171,776
GRCh38 X 153,906,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_716p1:p.Met272Ile
LRG_716t1:c.816G>A
NC_000023.11:g.153906322G>A
NC_000023.10:g.153171776G>A
More... 		05/28/2019 missense variant likely pathogenic 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_000054
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRITLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCT
NPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTTASSSLAKDTSS*

Gene Symbol:AVPR2
Accession:NM_001146151
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRITLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGGCSRG*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000990993 CLINVAR
dbSNP (RS) rs1603282342 CLINVAR
MedGen C1563705 CLINVAR
NCBI Gene AVPR2 CLINVAR
OMIM 300538 CLINVAR
  304800 CLINVAR