RGD:155975734 Rat Genome Database

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Variant: RGD:155975734 -  Homo sapiens

RGD ID: 155975734
ClinVar ID: CV2327877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IRGQ  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 44,096,996
GRCh38 19 43,592,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001007561.3:c.1054G>A
NM_001388309.1:c.1054G>A
NG_055008.1:g.8391G>A
NC_000019.10:g.43592844C>T
More... 		12/05/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:IRGQ
Accession:NM_001007561
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQGDVTALFLGPPGLGKSALIAALCDKDVETLEAPEGRPDSGVPSLRAAGPGLFLGELSCPPAAPGPWAAEANVLVL
VLPGPEGNGEPLAPALGEAALAALARGTPLLAVRNLRPGDSQTAAQARDQTAALLNSAGLGAADLFVLPANCGSSDGCEE
LERLRAALQSQAEALRRLLPPAQDGFEVLGAAELEAVREAFETGGLEAALSWVRSGLERLGSARLDLAVAGKADVGLVVD
MLLGLDPGDPGAAPASVPTAPTPFPAPERPNVVLWTVPLGHTGTATTAAAASHPTHYDALILVTPGAPTEKDWAQVQALL
LPDAPLVCVRTDGEGEDPECLGEGKMENPKGKSLKNAGGGGLENALSKGREKCSAGSQKAGSGEGPGKAGSEGLQQVVGM
KKSGGGDSERAAALSPEDETWEVLEEAPPPVFPLRPGGLPGLCEWLRRALPPAQAGALLLALPPASPSAARTKAAALRAG
AWRPALLASLAAAAAPLPGLGWACDVALLRGQLAEWRRGLGLEPTALARRERALGLASGELAARAHFPGPVTRAEVEARL
GAWAGEGTAGGAALGALSFLWPAGGAAATGGLGYRAAHGVLLQALDEMRADAEAVLAPPEPAQ*

Gene Symbol:IRGQ
Accession:NM_001388309
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQGDVTALFLGPPGLGKSALIAALCDKDVETLEAPEGRPDSGVPSLRAAGPGLFLGELSCPPAAPGPWAAEANVLVL
VLPGPEGNGEPLAPALGEAALAALARGTPLLAVRNLRPGDSQTAAQARDQTAALLNSAGLGAADLFVLPANCGSSDGCEE
LERLRAALQSQAEALRRLLPPAQDGFEVLGAAELEAVREAFETGGLEAALSWVRSGLERLGSARLDLAVAGKADVGLVVD
MLLGLDPGDPGAAPASVPTAPTPFPAPERPNVVLWTVPLGHTGTATTAAAASHPTHYDALILVTPGAPTEKDWAQVQALL
LPDAPLVCVRTDGEGEDPECLGEGKMENPKGKSLKNAGGGGLENALSKGREKCSAGSQKAGSGEGPGKAGSEGLQQVVGM
KKSGGGDSERAAALSPEDETWEVLEEAPPPVFPLRPGGLPGLCEWLRRALPPAQAGALLLALPPASPSAARTKAAALRAG
AWRPALLASLAAAAAPLPGLGWACDVALLRGQLAEWRRGLGLEPTALARRERALGLASGELAARAHFPGPVTRAEVEARL
GAWAGEGTAGGAALGALSFLWPAGGAAATGGLGYRAAHGVLLQALDEMRADAEAVLAPPEPAQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004179205 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IRGQ CLINVAR