RGD:15143275 Rat Genome Database

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Variant: RGD:15143275 -  Homo sapiens

RGD ID: 15143275
RS ID: rs193281914
ClinVar ID: CV689653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPU  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 245,020,168
GRCh38 1 244,856,866
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004501.3:c.1558-10T>C
NM_031844.3:c.1615-10T>C
NG_042184.1:g.12660T>C
NC_000001.11:g.244856866A>G
More... 		03/29/2018 intron variant benign Epileptic encephalopathy, early infantile, 54
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNRNPU
Accession:NM_004501
Location:INTRON

Gene Symbol:HNRNPU
Accession:NM_031844
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002536279 CLINVAR
dbSNP (RS) rs193281914 CLINVAR
MedGen C4479319 CLINVAR
NCBI Gene HNRNPU CLINVAR
OMIM 602869 CLINVAR
  617391 CLINVAR