RGD:13835064 Rat Genome Database

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Variant: RGD:13835064 -  Homo sapiens

RGD ID: 13835064
RS ID: rs757200331
ClinVar ID: CV586318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX26  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 18,561,375
GRCh38 22 18,078,609
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.230+3A>G
NG_008339.1:g.5690A>G
NC_000022.11:g.18078609A>G
NM_001199319.2:c.230+3A>G
More... 		09/19/2019 intron 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:INTRON

Gene Symbol:PEX26
Accession:NM_001199319
Location:INTRON

Gene Symbol:PEX26
Accession:NM_001127649
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000730758 CLINVAR
  RCV001202633 CLINVAR
dbSNP (RS) rs757200331 CLINVAR
MedGen C3888385 CLINVAR
  CN517202 CLINVAR
NCBI Gene PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR
  614873 CLINVAR