RGD:11612654 Rat Genome Database

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Variant: RGD:11612654 -  Homo sapiens

RGD ID: 11612654
RS ID: rs779168691
ClinVar ID: CV332777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127823564  PEX5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 7,342,531
GRCh38 12 7,189,935
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001131025.1:c.-298T>C
NG_008448.1:g.5773T>C
NC_000012.12:g.7189935T>C
NC_000012.11:g.7342531T>C
More... 		01/13/2018 2kb upstream variant|5 prime utr variant uncertain significance neonatal Cerebrohepatorenal syndrome; Cerebrohepatorenal syndrome, variant types
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX5
Accession:NM_001351137
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429267
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351130
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374648
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374649
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374647
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001300789
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001131025
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:XM_011520795
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351135
Location:5UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001131026
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429260
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_017019748
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351134
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351132
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351138
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001374645
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351126
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351127
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351128
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429265
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351133
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351131
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001131023
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351124
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351140
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001374646
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429270
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_000319
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351136
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001351139
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001131024
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429269
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429262
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429264
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429266
Location:5UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429257
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TLLCRAHRVLGLRGARELAVTMAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAVSVLEVESPG
AASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLA
AGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAK
VDDPKLANSEFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESD
VDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQ
DPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAE
EGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLL
WNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIW
STLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ*

Gene Symbol:PEX5
Accession:XM_047429268
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TLLCRAHRVLGLRGARELAVTMAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASE
DELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETD
WSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEGTSDA
WVDQFTRPVNTSALDMEFERAKSAIELQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLR
RLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACE
TLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEY
DKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALN
MQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ*

Gene Symbol:PEX5
Accession:XM_047429259
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TLLCRAHRVLGLRGARELAVTMAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASE
DELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETD
WSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFV
RQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESDVDFWDKLQAELEEMA
KRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQ
AENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRIL
GSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSE
EAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDA
YGAADARDLSTLLTMFGLPQ*

Gene Symbol:PEX5
Accession:XM_047429263
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TLLCRAHRVLGLRGARELAVTMAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASE
DELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETD
WSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFV
RQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIELQAELEEMAKRDAEAHP
WLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELL
AISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSL
FLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRR
ALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAADARD
LSTLLTMFGLPQ*

Gene Symbol:PEX5
Accession:XM_047429258
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TLLCRAHRVLGLRGARELAVTMAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAVSVLEVESPG
AASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLA
AGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAK
VDDPKLANSEFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIELQ
AELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAW
QYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGAGL
GPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATL
ANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALS
MLGQSDAYGAADARDLSTLLTMFGLPQ*

Gene Symbol:PEX5
Accession:XM_011520793
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TLLCRAHRVLGLRGARELAVTMAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAVSVLEVESPG
AASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLA
AGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAK
VDDPKLANSEFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESD
VDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQ
DPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAE
EGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLL
WNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIW
STLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ*

Gene Symbol:PEX5
Accession:XR_007063107
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000261119 CLINVAR
dbSNP (RS) rs779168691 CLINVAR
MedGen C3550273 CLINVAR
NCBI Gene PEX5 CLINVAR
OMIM 214110 CLINVAR
  600414 CLINVAR