RGD:12889363 Rat Genome Database

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Variant: RGD:12889363 -  Homo sapiens

RGD ID: 12889363
RS ID: rs11537737
ClinVar ID: CV391124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 245,018,909
GRCh38 1 244,855,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042184.1:g.13919C>T
NC_000001.11:g.244855607G>A
NC_000001.10:g.245018909G>A
NP_114032.2:p.Ala723=
More...
12/31/2019 synonymous variant benign|likely benign Epileptic encephalopathy, early infantile, 54; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:HNRNPU
Accession:NM_031844
Location:EXON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000516452 CLINVAR
  RCV002311785 CLINVAR
  RCV002525656 CLINVAR
dbSNP (RS) rs11537737 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4479319 CLINVAR
NCBI Gene HNRNPU CLINVAR
OMIM 602869 CLINVAR
  617391 CLINVAR