RGD:13834053 Rat Genome Database

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Variant: RGD:13834053 -  Homo sapiens

RGD ID: 13834053
RS ID: rs771847925
ClinVar ID: CV585293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX26  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 18,561,213
GRCh38 22 18,078,447
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199319.2:c.71C>G
NM_001127649.3:c.71C>G
NG_008339.1:g.5528C>G
NC_000022.11:g.18078447C>G
More... 		09/26/2017 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: P to R (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSERVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001199319
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSERVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEASPSSLHFLYKLAQLFRW
IRKAAFSRLYQLRIRD*

Gene Symbol:PEX26
Accession:NM_001127649
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDSSTSAAPLRGLGGPLRSSERVRAVPARAPAVDLLEEAADLLVVHLDFRAALETCERAWQSLANHAVAEEPAGTSLE
VKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPPKVLELCILLYSKMQEPGAVLDVVGAWLQDPANQNLPEYGALA
EFHVQRVLLPLGCLSEAEELVVGSAAFGEERRLDVLQAIHTARQQQKQEHSGSEEAQKPNLEGSVSHKFLSLPMLVRQLW
DSAVSHFFSLPFKKSLLAALILCLLVVRFDPASPSSLHFLYKLAQLFRWIRKAAFSRLYQLRIRD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000729469 CLINVAR
  RCV001307100 CLINVAR
dbSNP (RS) rs771847925 CLINVAR
MedGen C3888385 CLINVAR
  CN517202 CLINVAR
NCBI Gene PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR
  614873 CLINVAR