RGD:150467301 Rat Genome Database

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Variant: RGD:150467301 -  Homo sapiens

RGD ID: 150467301
RS ID: rs188788333
ClinVar ID: CV1218447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASXL1  LOC130065644  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 30,946,687
GRCh38 20 32,358,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_630t2:c.57+52C>T
NM_001164603.1:c.57+52C>T
NM_015338.6:c.57+52C>T
LRG_630:g.5541C>T
More... 		09/23/2019 intron variant benign none provided

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

Gene Symbol:ASXL1
Accession:XM_047439943
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439939
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439945
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_006723728
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_006723733
Location:INTRON

Gene Symbol:ASXL1
Accession:NM_001164603
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439941
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439942
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439944
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_006723730
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_011528648
Location:INTRON

Gene Symbol:ASXL1
Accession:XM_047439940
Location:INTRON

Gene Symbol:ASXL1
Accession:NM_015338
Location:INTRON

Gene Symbol:ASXL1
Accession:NM_001363734
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001614484 CLINVAR
dbSNP (RS) rs188788333 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ASXL1 CLINVAR
  LOC130065644 CLINVAR
OMIM 612990 CLINVAR