RGD:15184359 Rat Genome Database

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Variant: RGD:15184359 -  Homo sapiens

RGD ID: 15184359
RS ID: rs5197
ClinVar ID: CV743214
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVPR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,171,065
GRCh38 X 153,905,611
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_716p1:p.Leu35=
NM_001146151.3:c.105G>A
NG_013220.1:g.25650C>T
NG_008687.1:g.5638G>A
More... 		10/08/2021 synonymous variant benign|likely benign Diabetes insipidus nephrogenic type 1; Nephrogenic Diabetes Insipidus, Type I; Nephrogenic syndrome of inappropriate antidiuresis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AVPR2
Accession:NM_000054
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCT
NPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTTASSSLAKDTSS*

Gene Symbol:AVPR2
Accession:NM_001146151
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGGCSRG*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000908261 CLINVAR
  RCV001165927 CLINVAR
  RCV002487980 CLINVAR
  RCV003950691 CLINVAR
dbSNP (RS) rs5197 CLINVAR
MedGen C1563705 CLINVAR
  C3661900 CLINVAR
NCBI Gene AVPR2 CLINVAR
OMIM 300538 CLINVAR
  300539 CLINVAR
  304800 CLINVAR