RGD:8595641 Rat Genome Database

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Variant: RGD:8595641 -  Homo sapiens

RGD ID: 8595641
RS ID: rs74315506
ClinVar ID: CV17195
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130066940  PEX26  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 18,561,144
GRCh38 22 18,078,378
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008339.1:g.5459T>C
NC_000022.11:g.18078378T>C
NC_000022.10:g.18561144T>C
NP_060399.1:p.Met1Thr
More... 		08/17/2018 initiatior codon variant|initiator_codon_variant|missense|missense variant pathogenic|likely pathogenic 1-9 / 100 000 none provided; Peroxisome biogenesis disorder 7A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX26
Accession:NM_017929
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001127649
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001199319
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEASPSSLHFLYKLAQLFRW
IRKAAFSRLYQLRIRD*
Variant Samples
Additional References at PubMed
PMID:12851857   PMID:15858711   PMID:16257970   PMID:28944237  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002239 CLINVAR
  RCV000779366 CLINVAR
  RCV002269256 CLINVAR
dbSNP (RS) rs74315506 CLINVAR
MedGen C3553951 CLINVAR
  C3888385 CLINVAR
  CN517202 CLINVAR
NCBI Gene LOC130066940 CLINVAR
  PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR
  614873 CLINVAR
OMIM Allele 608666.0005 CLINVAR