RGD:26922280 Rat Genome Database

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Variant: RGD:26922280 -  Homo sapiens

RGD ID: 26922280
RS ID: rs368496010
ClinVar ID: CV839004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLPB  LOC130006336  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 72,145,326
GRCh38 11 72,434,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258394.3:c.-50G>T
LRG_1338t1:c.193G>T
NM_001258392.3:c.193G>T
NM_001258393.3:c.193G>T
More... 		11/27/2019 5 prime utr variant pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLPB
Accession:XM_047427656
Location:5UTRS;EXON

Gene Symbol:CLPB
Accession:XM_047427655
Location:5UTRS;EXON

Gene Symbol:CLPB
Accession:NM_001258394
Location:5UTRS;EXON

Gene Symbol:CLPB
Accession:NM_030813
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFS*RGAATGGRQGGRFDT
KCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADV
NAKHRLGWTALMVAAINRNNSVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWL
GLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGHTPLDYAREGEVMKLLRTSEA
KYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAAIRRKENGWYDEEHPLVFLFLGSSGIGKTELAKQTAKYMHK
DAKKGFIRLDMSEFQERHEVAKFIGSPPGYVGHEEGGQLTKKLKQCPNAVVLFDEVDKAHPDVLTIMLQLFDEGRLTDGK
GKTIDCKDAIFIMTSNVASDEIAQHALQLRQEALEMSRNRIAENLGDVQISDKITISKNFKENVIRPILKAHFRRDEFLG
RINEIVYFLPFCHSELIQLVNKELNFWAKRAKQRHNITLLWDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQ
DLLPGGCTLRITVEDSDKQLLKSPELPSPQAEKRLPKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI*

Gene Symbol:CLPB
Accession:NM_001258392
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFS*RGAATGGRQGGRFDT
KCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADV
NAKHRLGWTALMVAAINRNNSVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEVLITREDDFNNRLNNRASFKGCTAL
HYAVLADDYRTVKELLDGGANPLQRNEMGHTPLDYAREGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIGQ
ESAIATVGAAIRRKENGWYDEEHPLVFLFLGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFIGSPPGY
VGHEEGGQLTKKLKQCPNAVVLFDEVDKAHPDVLTIMLQLFDEGRLTDGKGKTIDCKDAIFIMTSNVASDEIAQHALQLR
QEALEMSRNRIAENLGDVQISDKITISKNFKENVIRPILKAHFRRDEFLGRINEIVYFLPFCHSELIQLVNKELNFWAKR
AKQRHNITLLWDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQDLLPGGCTLRITVEDSDKQLLKSPELPSPQ
AEKRLPKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI*

Gene Symbol:CLPB
Accession:XM_011545289
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFS*RGAATGGRQGGRFDT
KCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADV
NAKHRLGWTALMVAAINRNNSVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWL
GLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGHTPLDYAREGEVMKLLRTSEA
KYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAGDPHQAHPGLMP*

Gene Symbol:CLPB
Accession:NM_001258393
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFS*RGAATGGRQGGRFDT
KCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEVSSVVQVLLAA
GADPNLGDDFSSVYKTAKEQGIHSLEVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMG
HTPLDYAREGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAAIRRKENGWYDEEHPLVFLF
LGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFIGSPPGYVGHEEGGQLTKKLKQCPNAVVLFDEVDKA
HPDVLTIMLQLFDEGRLTDGKGKTIDCKDAIFIMTSNVASDEIAQHALQLRQEALEMSRNRIAENLGDVQISDKITISKN
FKENVIRPILKAHFRRDEFLGRINEIVYFLPFCHSELIQLVNKELNFWAKRAKQRHNITLLWDREVADVLVDGYNVHYGA
RSIKHEVERRVVNQLAAAYEQDLLPGGCTLRITVEDSDKQLLKSPELPSPQAEKRLPKLRLEIIDKDSKTRRLDIRAPLH
PEKVCNTI*

Gene Symbol:CLPB
Accession:XM_005274320
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFS*RGAATGGRQGGRFDT
KCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEVSSVVQVLLAA
GADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWLGLPAGVLITREDDFNNRLNNRASFKGCTA
LHYAVLADDYRTVKELLDGGANPLQRNEMGHTPLDYAREGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIG
QESAIATVGAAIRRKENGWYDEEHPLVFLFLGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFIGSPPG
YVGHEEGGQLTKKLKQCPNAVVLFDEVDKAHPDVLTIMLQLFDEGRLTDGKGKTIDCKDAIFIMTSNVASDEIAQHALQL
RQEALEMSRNRIAENLGDVQISDKITISKNFKENVIRPILKAHFRRDEFLGRINEIVYFLPFCHSELIQLVNKELNFWAK
RAKQRHNITLLWDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQDLLPGGCTLRITVEDSDKQLLKSPELPSP
QAEKRLPKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI*
Variant Samples
Additional References at PubMed
PMID:25597510   PMID:28492532   PMID:28687938  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001061785 CLINVAR
dbSNP (RS) rs368496010 CLINVAR
MedGen C5676893 CLINVAR
NCBI Gene CLPB CLINVAR
  LOC130006336 CLINVAR
OMIM 616254 CLINVAR
  616271 CLINVAR