RGD:11609514 Rat Genome Database

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Variant: RGD:11609514 -  Homo sapiens

RGD ID: 11609514
RS ID: rs192555214
ClinVar ID: CV315241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 77,893,781
GRCh38 8 76,981,545
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.23744A>G
NC_000008.11:g.76981545T>C
NC_000008.10:g.77893781T>C
NM_000318.3:c.*1716A>G
More... 		06/14/2016 3 prime utr variant uncertain significance neonatal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX2
Accession:NM_001172087
Location:3UTRS;EXON

Gene Symbol:PEX2
Accession:NM_001172086
Location:3UTRS;EXON

Gene Symbol:PEX2
Accession:NM_000318
Location:3UTRS;EXON

Gene Symbol:PEX2
Accession:NM_001079867
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000369403 CLINVAR
dbSNP (RS) rs192555214 CLINVAR
MedGen C3553940 CLINVAR
NCBI Gene PEX2 CLINVAR
OMIM 170993 CLINVAR
  614866 CLINVAR