RGD:11644413 Rat Genome Database

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Variant: RGD:11644413 -  Homo sapiens

RGD ID: 11644413
RS ID: rs886049830
ClinVar ID: CV332856
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 7,363,496
GRCh38 12 7,210,900
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.26738G>T
NC_000012.12:g.7210900G>T
NC_000012.11:g.7363496G>T
NM_001351128.2:c.*677G>T
More... 		01/12/2018 3 prime utr variant uncertain significance neonatal Cerebrohepatorenal syndrome; Cerebrohepatorenal syndrome, variant types
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX5
Accession:NM_000319
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351137
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374645
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374647
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429260
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429270
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_017019748
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351124
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001131025
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_011520795
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351140
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351132
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429263
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429268
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001131023
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351135
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351131
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351127
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351128
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351138
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351136
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374648
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429262
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429258
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429265
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351133
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001131024
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351126
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429267
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429264
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_011520793
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429269
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374649
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:XM_047429266
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001300789
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351134
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351139
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001351130
Location:3UTRS;EXON

Gene Symbol:PEX5
Accession:NM_001374646
Location:3UTRS;INTRON

Gene Symbol:PEX5
Accession:NM_001131026
Location:3UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429259
Location:3UTRS;INTRON

Gene Symbol:PEX5
Accession:XM_047429257
Location:3UTRS;INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260036 CLINVAR
dbSNP (RS) rs886049830 CLINVAR
MedGen C3550273 CLINVAR
NCBI Gene PEX5 CLINVAR
OMIM 214110 CLINVAR
  600414 CLINVAR