RGD:13522757 Rat Genome Database

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Variant: RGD:13522757 -  Homo sapiens

RGD ID: 13522757
RS ID: rs1158271855
ClinVar ID: CV492934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX26  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 18,561,261
GRCh38 22 18,078,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127649.3:c.119A>C
NM_017929.6:c.119A>C
NP_001121121.1:p.Glu40Ala
NP_001186248.1:p.Glu40Ala
More... 		09/06/2018 missense variant uncertain significance none provided; Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX26
Accession:NM_017929
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEAAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001127649
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEAAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001199319
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEAAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEASPSSLHFLYKLAQLFRW
IRKAAFSRLYQLRIRD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000592145 CLINVAR
  RCV001341513 CLINVAR
  RCV002532597 CLINVAR
dbSNP (RS) rs1158271855 CLINVAR
MedGen C0950123 CLINVAR
  C3888385 CLINVAR
  CN517202 CLINVAR
NCBI Gene PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR
  614873 CLINVAR