RGD:28875999 Rat Genome Database

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Variant: RGD:28875999 -  Homo sapiens

RGD ID: 28875999
RS ID: rs1254271466
ClinVar ID: CV858750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASXL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 31,022,234
GRCh38 20 32,434,431
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363734.1:c.1537-1G>A
NM_015338.6:c.1720-1G>A
LRG_630:g.81088G>A
NG_027868.1:g.81088G>A
More... 		06/24/2019 splice acceptor variant pathogenic Bohring syndrome; BOS syndrome; C-like syndrome; Opitz trigonocephaly-like syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ASXL1
Accession:XM_006723727
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439939
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439943
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_006723733
Location:INTRON

Gene Symbol:ASXL1
Accession:NM_001363734
Location:INTRON

Gene Symbol:ASXL1
Accession:NM_001164603
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_006723730
Location:INTRON

Gene Symbol:ASXL1
Accession:NM_015338
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_011528648
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439945
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439944
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439940
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_006723728
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439941
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439942
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001090157 CLINVAR
dbSNP (RS) rs1254271466 CLINVAR
MedGen C0796232 CLINVAR
NCBI Gene ASXL1 CLINVAR
OMIM 605039 CLINVAR
  612990 CLINVAR