RGD:28869693 Rat Genome Database

Send us a Message



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

Variant: RGD:28869693 -  Homo sapiens

RGD ID: 28869693
RS ID: rs186314626
ClinVar ID: CV890878
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX26  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 18,573,544
GRCh38 22 18,090,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199319.2:c.*2703G>A
NM_017929.6:c.*2703G>A
NG_008339.1:g.17859G>A
NC_000022.11:g.18090778G>A
More...
01/13/2018 3 prime utr variant likely benign Peroxisome biogenesis disorder 7A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX26
Accession:NM_001127649
Location:3UTRS;EXON

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

Gene Symbol:PEX26
Accession:NM_017929
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001145030 CLINVAR
dbSNP (RS) rs186314626 CLINVAR
MedGen C3888385 CLINVAR
NCBI Gene PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR