RGD:11658572 Rat Genome Database

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Variant: RGD:11658572 -  Homo sapiens

RGD ID: 11658572
RS ID: rs886063141
ClinVar ID: CV315357
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 77,912,244
GRCh38 8 77,000,008
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_008371.1:g.5281C>T
NC_000008.11:g.77000008G>A
NC_000008.10:g.77912244G>A
NG_062586.1:g.36G>A
More... 		06/14/2016 5 prime utr variant uncertain significance neonatal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX2
Accession:NM_000318
Location:5UTRS;EXON

Gene Symbol:PEX2
Accession:NM_001079867
Location:5UTRS;EXON

Gene Symbol:PEX2
Accession:NM_001172086
Location:5UTRS;EXON

Gene Symbol:PEX2
Accession:NM_001172087
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000350256 CLINVAR
dbSNP (RS) rs886063141 CLINVAR
MedGen C3553940 CLINVAR
NCBI Gene PEX2 CLINVAR
OMIM 170993 CLINVAR
  614866 CLINVAR