RGD:11585110 Rat Genome Database

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Variant: RGD:11585110 -  Homo sapiens

RGD ID: 11585110
RS ID: rs16831724
ClinVar ID: CV277803
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX19  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,248,854
GRCh38 1 160,279,064
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_008637.1:g.11088T>A
NC_000001.11:g.160279064A>T
NC_000001.10:g.160248854A>T
NM_002857.3:c.*487T>A
More... 		01/12/2018 3 prime utr variant benign|likely benign neonatal Peroxisome biogenesis disorder 12A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX19
Accession:NM_001193644
Location:3UTRS;EXON

Gene Symbol:PEX19
Accession:NM_002857
Location:3UTRS;EXON

Gene Symbol:PEX19
Accession:NR_036493
Location:EXON;NON-CODING

Gene Symbol:PEX19
Accession:NR_036492
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278560 CLINVAR
dbSNP (RS) rs16831724 CLINVAR
MedGen C3554002 CLINVAR
NCBI Gene PEX19 CLINVAR
OMIM 600279 CLINVAR
  614886 CLINVAR