RGD:126727979 Rat Genome Database

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Variant: RGD:126727979 -  Homo sapiens

RGD ID: 126727979
RS ID: rs2063344708
ClinVar ID: CV1018999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068256  PQBP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 48,755,824
GRCh38 X 48,898,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001032381.2:c.32T>C
NM_001032383.2:c.32T>C
NM_001167992.1:c.32T>C
NP_001027553.1:p.Leu11Ser
More... 		05/12/2020 missense variant likely pathogenic GOLABI-ITO-HALL SYNDROME; MENTAL RETARDATION, X-LINKED 55; Mental retardation, X-linked Renpenning type; Mental retardation, X-linked, syndromic 8; Renpenning syndrome 1; Sutherland-Haan syndrome; Sutherland-Haan X-linked mental retardation syndrome; X-linked mental retardation syndromic 3; X-linked mental retardation with spastic diplegia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PQBP1
Accession:NM_001032384
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:XM_005272572
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNAAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRAN
AEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_001167992
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADREEGKERRHHR
REELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASR
TKQQD*

Gene Symbol:PQBP1
Accession:XM_017029207
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQ
QRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:XM_047441754
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNAAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRAN
AEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_001032383
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_001032381
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_005710
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:XM_011543884
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:XM_047441753
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQ
QRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_001167989
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQ
QRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_144495
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNAAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRAN
AEASRTKQQD*

Gene Symbol:PQBP1
Accession:XM_005272571
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQ
QRPYPSPGAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_001167990
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSCGLPYYWNADTDLVSWLSPHDPNSVVTKS
AKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKA
DREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSP
GAVLRANAEASRTKQQD*

Gene Symbol:PQBP1
Accession:NM_001032382
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPVALQTRSAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHD
PNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERD
RDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001332660 CLINVAR
dbSNP (RS) rs2063344708 CLINVAR
MedGen C0796135 CLINVAR
NCBI Gene LOC130068256 CLINVAR
  PQBP1 CLINVAR
OMIM 300463 CLINVAR
  309500 CLINVAR