RGD:11548846 Rat Genome Database

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Variant: RGD:11548846 -  Homo sapiens

RGD ID: 11548846
RS ID: rs11568374
ClinVar ID: CV250357
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB11  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 169,801,097
GRCh38 2 168,944,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.168944587T>G
NC_000002.11:g.169801097T>G
NM_003742.4:c.2610+18A>C
NM_003742.2:c.2610+18A>C
More... 		10/05/2017 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:ABCB11
Accession:XM_017005167
Location:INTRON

Gene Symbol:ABCB11
Accession:NM_003742
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_006712817
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_017005165
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_011512080
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_011512078
Location:INTRON

Gene Symbol:ABCB11
Accession:XM_017005166
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000249629 CLINVAR
  RCV002519918 CLINVAR
dbSNP (RS) rs11568374 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ABCB11 CLINVAR
OMIM 603201 CLINVAR