RGD:26907962 Rat Genome Database

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Variant: RGD:26907962 -  Homo sapiens

RGD ID: 26907962
RS ID: rs760383043
ClinVar ID: CV855118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIX1L-AS1  LOC126805851  RBM8A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 145,507,648
GRCh38 1 145,927,445
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_574t1:c.-19G>T
NM_005105.5:c.-19G>T
LRG_574:g.5092G>T
NG_032654.2:g.5092G>T
More... 		11/02/2019 5 prime utr variant pathogenic Absent radii and thrombocytopenia; TAR syndrome; Thrombocytopenia absent radii; Thrombocytopenia Absent Radius Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RBM8A
Accession:NM_005105
Location:5UTRS;EXON

Gene Symbol:LIX1L-AS1
Accession:NR_147182
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16501574   PMID:23754559   PMID:32227665  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001072153 CLINVAR
dbSNP (RS) rs760383043 CLINVAR
MedGen C0175703 CLINVAR
NCBI Gene LIX1L-AS1 CLINVAR
  LOC126805851 CLINVAR
  RBM8A CLINVAR
OMIM 274000 CLINVAR
  605313 CLINVAR
SNOMED CT 85589009 CLINVAR