RGD:12840373 Rat Genome Database

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Variant: RGD:12840373 -  Homo sapiens

RGD ID: 12840373
RS ID: rs370406753
ClinVar ID: CV369624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 87,049,301
GRCh38 7 87,419,985
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.87419985C>T
NC_000007.13:g.87049301C>T
NM_000443.4:c.2394+13G>A
NM_018849.3:c.2394+13G>A
More... 		10/18/2016 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:ABCB4
Accession:NM_018850
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_011516309
Location:INTRON

Gene Symbol:ABCB4
Accession:NM_000443
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420476
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_011516308
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420475
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420477
Location:INTRON

Gene Symbol:ABCB4
Accession:NM_018849
Location:INTRON

Gene Symbol:ABCB4
Accession:XR_007060054
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060052
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060053
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060048
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060055
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_001744810
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060045
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060046
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060051
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060049
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060050
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060047
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000430582 CLINVAR
  RCV003766399 CLINVAR
dbSNP (RS) rs370406753 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ABCB4 CLINVAR
OMIM 171060 CLINVAR