RGD:11629706 Rat Genome Database

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Variant: RGD:11629706 -  Homo sapiens

RGD ID: 11629706
RS ID: rs464385
ClinVar ID: CV347074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX26  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 18,571,008
GRCh38 22 18,088,242
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.15323G>A
NC_000022.11:g.18088242G>A
NC_000022.10:g.18571008G>A
NM_001127649.3:c.*167G>A
More... 		08/07/2018 3 prime utr variant benign neonatal 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:3UTRS;EXON

Gene Symbol:PEX26
Accession:NM_001127649
Location:3UTRS;EXON

Gene Symbol:PEX26
Accession:NM_001199319
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000331781 CLINVAR
  RCV001675841 CLINVAR
dbSNP (RS) rs464385 CLINVAR
MedGen C3661900 CLINVAR
  C3888385 CLINVAR
NCBI Gene PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR