RGD:8595640 Rat Genome Database

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Variant: RGD:8595640 -  Homo sapiens

RGD ID: 8595640
RS ID: rs28940308
ClinVar ID: CV17192
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX26  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 18,562,674
GRCh38 22 18,079,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008339.1:g.6989G>A
NC_000022.11:g.18079908G>A
NC_000022.10:g.18562674G>A
NP_060399.1:p.Gly89Arg
More... 		02/01/2023 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 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: G to R (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVRIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001199319
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVRIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEASPSSLHFLYKLAQLFRW
IRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001127649
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSEPVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVRIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*
Variant Samples
Additional References at PubMed
PMID:12851857   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002236 CLINVAR
dbSNP (RS) rs28940308 CLINVAR
MedGen C3888385 CLINVAR
NCBI Gene PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR
OMIM Allele 608666.0002 CLINVAR