RGD:8569264 Rat Genome Database

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Variant: RGD:8569264 -  Homo sapiens

RGD ID: 8569264
RS ID: rs193922112
ClinVar ID: CV44401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVPR2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,171,136
GRCh38 X 153,905,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008687.1:g.5709T>C
NC_000023.11:g.153905682T>C
NC_000023.10:g.153171136T>C
NP_000045.1:p.Leu59Pro
More... 		08/18/2011 intron variant|missense variant|missense_variant likely pathogenic ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic X-linked; Vasopressin-resistant 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:AVPR2
Accession:NM_000054
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVPAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCT
NPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTTASSSLAKDTSS*

Gene Symbol:AVPR2
Accession:NM_001146151
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVPAALARRGRRGHWAPIHVFIGH
LCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPV
LVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGGCSRG*

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

Variant Samples
Additional References at PubMed
PMID:9773787   PMID:10714359   PMID:10749568   PMID:10918636   PMID:11128419   PMID:16319185   PMID:16689923   PMID:19729439  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029386 CLINVAR
dbSNP (RS) rs193922112 CLINVAR
MedGen C0162283 CLINVAR
NCBI Gene AVPR2 CLINVAR
OMIM 300538 CLINVAR
SNOMED CT 111395007 CLINVAR