RGD:11649624 Rat Genome Database

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Variant: RGD:11649624 -  Homo sapiens

RGD ID: 11649624
RS ID: rs886049825
ClinVar ID: CV334443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 7,351,724
GRCh38 12 7,199,128
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_008448.1:g.14966C>T
NC_000012.12:g.7199128C>T
NC_000012.11:g.7351724C>T
NM_001131025.2:c.551+15C>T
More... 		07/22/2021 intron variant likely benign|uncertain significance neonatal Peroxisome biogenesis disorder 1a; Zellweger leukodystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX5
Accession:NM_001351127
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429257
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001131025
Location:INTRON

Gene Symbol:PEX5
Accession:XM_011520795
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001374648
Location:INTRON

Gene Symbol:PEX5
Accession:NM_000319
Location:INTRON

Gene Symbol:PEX5
Accession:XM_011520793
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351128
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351135
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001374649
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429269
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429260
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429264
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001300789
Location:INTRON

Gene Symbol:PEX5
Accession:XM_017019748
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351134
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001131023
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351131
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351138
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351136
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351139
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351137
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429259
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001131024
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001374645
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429268
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001131026
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429265
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429270
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351133
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429262
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429267
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351132
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001374646
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001374647
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429263
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351126
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351140
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351130
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429258
Location:INTRON

Gene Symbol:PEX5
Accession:XM_047429266
Location:INTRON

Gene Symbol:PEX5
Accession:NM_001351124
Location:INTRON

Gene Symbol:PEX5
Accession:XR_007063107
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000288618 CLINVAR
  RCV002056332 CLINVAR
dbSNP (RS) rs886049825 CLINVAR
MedGen C3550234 CLINVAR
  C4721541 CLINVAR
NCBI Gene PEX5 CLINVAR
OMIM 202370 CLINVAR
  214100 CLINVAR
  600414 CLINVAR