RGD:11660569 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11660569 -  Homo sapiens

RGD ID: 11660569
RS ID: rs886063130
ClinVar ID: CV315249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 77,893,936
GRCh38 8 76,981,700
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.23589G>A
NC_000008.11:g.76981700C>T
NC_000008.10:g.77893936C>T
NM_000318.2:c.*1561G>A
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_000318
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000368367 CLINVAR
dbSNP (RS) rs886063130 CLINVAR
MedGen C3553940 CLINVAR
NCBI Gene PEX2 CLINVAR
OMIM 170993 CLINVAR
  614866 CLINVAR