RGD:150419327 Rat Genome Database

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Variant: RGD:150419327 -  Homo sapiens

RGD ID: 150419327
RS ID: rs9340844
ClinVar ID: CV1180099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ESR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 152,201,624
GRCh38 6 151,880,489
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001328100.2:c.125-166G>A
NM_000125.4:c.644-166G>A
NM_001122740.2:c.644-166G>A
NM_001122741.2:c.644-166G>A
More... 		09/22/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ESR1
Accession:NM_001122742
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010377
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418297
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535543
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385569
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122740
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535545
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418295
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535547
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001291230
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385570
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418292
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385572
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418296
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418293
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418289
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418294
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010383
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385568
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010381
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001291241
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001385571
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418299
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418298
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010378
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010379
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418290
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001122741
Location:INTRON

Gene Symbol:ESR1
Accession:NM_000125
Location:INTRON

Gene Symbol:ESR1
Accession:XM_011535549
Location:INTRON

Gene Symbol:ESR1
Accession:XM_017010380
Location:INTRON

Gene Symbol:ESR1
Accession:NM_001328100
Location:INTRON

Gene Symbol:ESR1
Accession:XM_047418291
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001551001 CLINVAR
dbSNP (RS) rs9340844 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ESR1 CLINVAR
OMIM 133430 CLINVAR