RGD:401928048 Rat Genome Database

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Variant: RGD:401928048 -  Homo sapiens

RGD ID: 401928048
ClinVar ID: CV2822283
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGZ  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 196,675,397
GRCh38 3 196,948,526
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_025163.4:c.371C>T
NG_101609.1:g.543G>A
NC_000003.12:g.196948526G>A
NC_000003.11:g.196675397G>A
More... 		08/01/2023 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PIGZ
Accession:XM_017007243
Location:5UTRS;EXON

Gene Symbol:PIGZ
Accession:NM_025163
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQICGSSVASVAAGTSFQVLGPVCWQQLDLKMAVRVLWGGLSLLRVLWCLLPQTGYVHPDEFFQSPEVMAEDILGVQAAR
PWEFYPSSSCRSVLFPLLISGSTFWLLRLWEELGPWPGLVSGYVLLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALA
LLSGSYVTLVFYTRTFSNTIEGLLFTWLLVLVSSHVTWGPTRKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYL
WGTRGATNPGLKSLTREALVLLPGAALTAAVFVATDSWYFSSPATSRNLVLTPVNFLHYNLNPQNLARHGTHARLTHLAV
NGFLLFGVLHAQALQAAWQRLQVGLQASAQMGLLRALGARSLLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLV
LLCSPQTQPVPWKGTVVLFNALGALLFGCLHQGGLVPGLEYLEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGA
PVEVVDMGGTEDWALCQTLKSFTRQPACQVAGGPWLCRLFVVTPGTTRRAVEKCSFPFKNETLLFPHLTLEDPPALSSLL
SGAWRDHLSLHIVELGEET*

Gene Symbol:PIGZ
Accession:XM_011513192
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTHWLTKEGAVCKQKQPTQGLQPSKDSAQPATPKAKKSQMQICGSSVASVAAGTSFQVLGPVCWQQLDLKMAVRVLWGGL
SLLRVLWCLLPQTGYVHPDEFFQSPEVMAEDILGVQAARPWEFYPSSSCRSVLFPLLISGSTFWLLRLWEELGPWPGLVS
GYVLLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALALLSGSYVTLVFYTRTFSNTIEGLLFTWLLVLVSSHVTWGPT
RKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYLWGTRGATNPGLKSLTREALVLLPGAALTAAVFVATDSWYFS
SPATSRNLVLTPVNFLHYNLNPQNLARHGTHARLTHLAVNGFLLFGVLHAQALQAAWQRLQVGLQASAQMGLLRALGARS
LLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLVLLCSPQTQPVPWKGTVVLFNALGALLFGCLHQGGLVPGLEY
LEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGAPVEVVDMGGTEDWALCQTLKSFTRQPACQVAGGPWLCRLFV
VTPGTTRRAVEKCSFPFKNETLLFPHLTLEDPPALSSLLSGAWRDHLSLHIVELGEET*

Gene Symbol:PIGZ
Accession:XM_017007241
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQSTPGHASYHLPHYSSTENDCCYMTHWLTKEGAVCKQKQPTQGLQPSKDSAQPATPKAKKSQMQICGSSVASVAAGT
SFQVLGPVCWQQLDLKMAVRVLWGGLSLLRVLWCLLPQTGYVHPDEFFQSPEVMAEDILGVQAARPWEFYPSSSCRSVLF
PLLISGSTFWLLRLWEELGPWPGLVSGYVLLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALALLSGSYVTLVFYTRT
FSNTIEGLLFTWLLVLVSSHVTWGPTRKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYLWGTRGATNPGLKSLT
REALVLLPGAALTAAVFVATDSWYFSSPATSRNLVLTPVNFLHYNLNPQNLARHGTHARLTHLAVNGFLLFGVLHAQALQ
AAWQRLQVGLQASAQMGLLRALGARSLLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLVLLCSPQTQPVPWKGT
VVLFNALGALLFGCLHQGGLVPGLEYLEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGAPVEVVDMGGTEDWAL
CQTLKSFTRQPACQVAGGPWLCRLFVVTPGTTRRAVEKCSFPFKNETLLFPHLTLEDPPALSSLLSGAWRDHLSLHIVEL
GEET*

Gene Symbol:PIGZ
Accession:XM_024453767
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQSTPGHASYHLPHYSSTENDCCYMTHWLTKEGAVCKQKQPTQGLQPSKDSAQPATPKAKKSQMQICGSSVASVAAGT
SFQVLGPVCWQQLDLKMAVRVLWGGLSLLRVLWCLLPQTGYVHPDEFFQSPEVMAEDILGVQAARPWEFYPSSSCRSVLF
PLLISGSTFWLLRLWEELGPWPGLVSGYVLLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALALLSGSYVTLVFYTRT
FSNTIEGLLFTWLLVLVSSHVTWGPTRKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYLWGTRGATNPGLKSLT
REALVLLPGAALTAAVFVATDSWYFSSPATSRNLVLTPVNFLHYNLNPQNLARHGTHARLTHLAVNGFLLFGVLHAQALQ
AAWQRLQVGLQASAQMGLLRALGARSLLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLVLLCSPQTQPVPWKGT
VVLFNALGALLFGCLHQGGLVPGLEYLEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGAPVEVVDMGGTEDWAL
CQTLKSFTRQPACQVAGGPWLCRLFVVTPGTTRRAVEKCSFPFKNETLLFPHLTLEDPPALSSLLSGAWRDHLSLHIVEL
GEET*

Gene Symbol:PIGZ
Accession:XM_024453766
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQSTPGHASYHLPHYSSTENDCCYMTHWLTKEGAVCKQKQPTQGLQPSKDSAQPATPKAKKSQMQICGSSVASVAAGT
SFQVLGPVCWQQLDLKMAVRVLWGGLSLLRVLWCLLPQTGYVHPDEFFQSPEVMAEDILGVQAARPWEFYPSSSCRSVLF
PLLISGSTFWLLRLWEELGPWPGLVSGYVLLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALALLSGSYVTLVFYTRT
FSNTIEGLLFTWLLVLVSSHVTWGPTRKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYLWGTRGATNPGLKSLT
REALVLLPGAALTAAVFVATDSWYFSSPATSRNLVLTPVNFLHYNLNPQNLARHGTHARLTHLAVNGFLLFGVLHAQALQ
AAWQRLQVGLQASAQMGLLRALGARSLLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLVLLCSPQTQPVPWKGT
VVLFNALGALLFGCLHQGGLVPGLEYLEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGAPVEVVDMGGTEDWAL
CQTLKSFTRQPACQVAGGPWLCRLFVVTPGTTRRAVEKCSFPFKNETLLFPHLTLEDPPALSSLLSGAWRDHLSLHIVEL
GEET*

Gene Symbol:PIGZ
Accession:XM_047448993
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTHWLTKEGAVCKQKQPTQGLQPSKDSAQPATPKAKKSQMQICGSSVASVAAGTSFQVLGPVCWQQLDLKMAVRVLWGGL
SLLRVLWCLLPQTGYVHPDEFFQSPEVMAEDILGVQAARPWEFYPSSSCRSVLFPLLISGSTFWLLRLWEELGPWPGLVS
GYVLLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALALLSGSYVTLVFYTRTFSNTIEGLLFTWLLVLVSSHVTWGPT
RKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYLWGTRGATNPGLKSLTREALVLLPGAALTAAVFVATDSWYFS
SPATSRNLVLTPVNFLHYNLNPQNLARHGTHARLTHLAVNGFLLFGVLHAQALQAAWQRLQVGLQASAQMGLLRALGARS
LLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLVLLCSPQTQPVPWKGTVVLFNALGALLFGCLHQGGLVPGLEY
LEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGAPVEVVDMGGTEDWALCQTLKSFTRQPACQVAGGPWLCRLFV
VTPGTTRRAVEKCSFPFKNETLLFPHLTLEDPPALSSLLSGAWRDHLSLHIVELGEET*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003439185 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PIGZ CLINVAR
OMIM 611671 CLINVAR