RGD:15137183 Rat Genome Database

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Variant: RGD:15137183 -  Homo sapiens

RGD ID: 15137183
RS ID: rs774237731
ClinVar ID: CV759275
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX13  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 61,275,603
GRCh38 2 61,048,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002618.4:c.914-4T>A
NG_008665.1:g.35792T>A
NC_000002.12:g.61048468T>A
NM_002618.3:c.914-4T>A
More...
04/24/2018 intron variant likely benign Peroxisome biogenesis disorder 11A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX13
Accession:NM_002618
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000921129 CLINVAR
dbSNP (RS) rs774237731 CLINVAR
MedGen C3554000 CLINVAR
NCBI Gene PEX13 CLINVAR
OMIM 601789 CLINVAR
  614883 CLINVAR