RGD:11628534 Rat Genome Database

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Variant: RGD:11628534 -  Homo sapiens

RGD ID: 11628534
RS ID: rs114075265
ClinVar ID: CV347108
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX26  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 18,573,542
GRCh38 22 18,090,776
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.17857G>C
NC_000022.11:g.18090776G>C
NC_000022.10:g.18573542G>C
NM_001127649.3:c.*2701G>C
More... 		01/12/2018 3 prime utr variant benign|likely benign neonatal 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 RCV000302945 CLINVAR
dbSNP (RS) rs114075265 CLINVAR
MedGen C3888385 CLINVAR
NCBI Gene PEX26 CLINVAR
OMIM 608666 CLINVAR
  614872 CLINVAR