RGD:28885970 Rat Genome Database

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Variant: RGD:28885970 -  Homo sapiens

RGD ID: 28885970
RS ID: rs375607663
ClinVar ID: CV885266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX13  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 61,276,910
GRCh38 2 61,049,775
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.61049775C>A
NC_000002.11:g.61276910C>A
NM_002618.3:c.*1005C>A
NG_008665.1:g.37099C>A
More... 		01/13/2018 3 prime utr variant uncertain significance Peroxisome biogenesis disorder 11A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX13
Accession:NM_002618
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001137668 CLINVAR
dbSNP (RS) rs375607663 CLINVAR
MedGen C3554000 CLINVAR
NCBI Gene PEX13 CLINVAR
OMIM 601789 CLINVAR
  614883 CLINVAR