RGD:150339400 Rat Genome Database

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Variant: RGD:150339400 -  Homo sapiens

RGD ID: 150339400
RS ID: rs10495909
ClinVar ID: CV1167247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 44,064,784
GRCh38 2 43,837,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1181t1:c.265+189C>T
NM_022436.3:c.265+189C>T
LRG_1181:g.6175C>T
LRG_1182:g.10704G>A
More... 		07/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ABCG5
Accession:XM_011533027
Location:5UTRS;INTRON

Gene Symbol:ABCG5
Accession:XM_011533028
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_011533026
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_047445409
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_005264480
Location:INTRON

Gene Symbol:ABCG5
Accession:NM_022436
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_011533025
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_047445410
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_047445411
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_006712073
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_006712074
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_011533024
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001534204 CLINVAR
dbSNP (RS) rs10495909 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCG5 CLINVAR
OMIM 605459 CLINVAR