RGD:11647638 Rat Genome Database

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Variant: RGD:11647638 -  Homo sapiens

RGD ID: 11647638
RS ID: rs886062461
ClinVar ID: CV311828
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 87,104,961
GRCh38 7 87,475,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000007.14:g.87475645C>A
NC_000007.13:g.87104961C>A
NM_018850.3:c.-18G>T
NM_000443.4:c.-18G>T
More... 		06/14/2016 5 prime utr variant uncertain significance 1-9 / 100 000 Cholestasis, intrahepatic, of pregnancy, 3; Gallbladder disease 1; Gallstone cholecystitis; Low Gamma-GT Familial Intrahepatic Cholestasis; Low phospholipid associated cholelithiasis; MDR3 deficiency; Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCB4
Accession:XM_047420475
Location:5UTRS;EXON

Gene Symbol:ABCB4
Accession:NM_018850
Location:5UTRS;EXON

Gene Symbol:ABCB4
Accession:NM_018849
Location:5UTRS;EXON

Gene Symbol:ABCB4
Accession:XM_047420476
Location:5UTRS;EXON

Gene Symbol:ABCB4
Accession:NM_000443
Location:5UTRS;EXON

Gene Symbol:ABCB4
Accession:XM_011516309
Location:5UTRS;INTRON

Gene Symbol:ABCB4
Accession:XM_047420477
Location:5UTRS;INTRON

Gene Symbol:ABCB4
Accession:XM_011516308
Location:5UTRS;INTRON

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

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

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

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

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

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000277688 CLINVAR
  RCV000369391 CLINVAR
  RCV002481236 CLINVAR
dbSNP (RS) rs886062461 CLINVAR
MedGen C1865643 CLINVAR
  C3554241 CLINVAR
NCBI Gene ABCB4 CLINVAR
  LOC129998757 CLINVAR
OMIM 171060 CLINVAR
  600803 CLINVAR
  602347 CLINVAR
  614972 CLINVAR
SNOMED CT 715577009 CLINVAR