RGD:401779292 Rat Genome Database

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Variant: RGD:401779292 -  Homo sapiens

RGD ID: 401779292
ClinVar ID: CV2718466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OSCAR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 54,600,378
GRCh38 19 54,097,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282350.3:c.111C>G
NM_133168.6:c.111C>G
NM_001282349.3:c.144C>G
NM_133169.6:c.144C>G
More... 		05/24/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OSCAR
Accession:NM_130771
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVAIIVPPASYHPKPWLGAQPATVVTPGVKVTLRCRAPQPAWRFGLFKPGEIAPLLFR
DVSSELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRN
MSFVLYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLA
GLVLISLGALVTFDWRSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_001282349
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVPPASYHPKPWLGAQPATVVTPGVKVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSS
ELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFV
LYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAPGPPP
SDPGAQAPSLSSFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*

Gene Symbol:OSCAR
Accession:NM_133168
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLFPPASYHPKPWLGAQPATVVTPGVKVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSSELAEFFLEEVT
PAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFVLYREGVAAPLQ
YRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLAGLVLISLGALVTFDW
RSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_001282350
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLFPPASYHPKPWLGAQPATVVTPGVKVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSSELAEFFLEEVT
PAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFVLYREGVAAPLQ
YRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAPGPPPSDPGAQAPSLS
SFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*

Gene Symbol:OSCAR
Accession:NM_133169
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVPPASYHPKPWLGAQPATVVTPGVKVTLRCRAPQPAWRFGLFKPGEIAPLLFRDVSS
ELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRNMSFV
LYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEDSGSSDYTRGNLVRLGLAGLVL
ISLGALVTFDWRSQNRAPAGIRP*

Gene Symbol:OSCAR
Accession:NM_206818
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVLILQLLTLWPLCHTDITPSVAIIVPPASYHPKPWLGAQPATVVTPGVKVTLRCRAPQPAWRFGLFKPGEIAPLLFR
DVSSELAEFFLEEVTPAQGGSYRCCYRRPDWGPGVWSQPSDVLELLVTEELPRPSLVALPGPVVGPGANVSLRCAGRLRN
MSFVLYREGVAAPLQYRHSAQPWADFTLLGARAPGTYSCYYHTPSAPYVLSQRSEVLVISWEGEGPEARPASSAPGMQAP
GPPPSDPGAQAPSLSSFRPRGLVLQPLLPQTQDSWDPAPPPSDPGV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004318278 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OSCAR CLINVAR
OMIM 606862 CLINVAR