RGD:11611368 Rat Genome Database

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Variant: RGD:11611368 -  Homo sapiens

RGD ID: 11611368
RS ID: rs202210861
ClinVar ID: CV312005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 101,577,059
GRCh38 10 99,817,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000010.11:g.99817302A>G
NC_000010.10:g.101577059A>G
NM_000392.3:c.2095-6A>G
LRG_1208t1:c.2095-6A>G
More... 		10/01/2023 intron variant benign|uncertain significance adolescent Hyperbilirubinemia type 2; HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE; Jaundice, Chronic Idiopathic; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCC2
Accession:XM_047424598
Location:INTRON

Gene Symbol:ABCC2
Accession:XM_006717630
Location:INTRON

Gene Symbol:ABCC2
Accession:XM_006717631
Location:INTRON

Gene Symbol:ABCC2
Accession:XM_017015675
Location:INTRON

Gene Symbol:ABCC2
Accession:XM_011539291
Location:INTRON

Gene Symbol:ABCC2
Accession:NM_000392
Location:INTRON

Gene Symbol:ABCC2
Accession:XR_945604
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000394126 CLINVAR
  RCV000924497 CLINVAR
dbSNP (RS) rs202210861 CLINVAR
MedGen C0022350 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABCC2 CLINVAR
OMIM 237500 CLINVAR
  601107 CLINVAR
SNOMED CT 44553005 CLINVAR