RGD:150514827 Rat Genome Database

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Variant: RGD:150514827 -  Homo sapiens

RGD ID: 150514827
RS ID: rs17030297
ClinVar ID: CV1228643
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR1H4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 100,934,791
GRCh38 12 100,541,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005123.4:c.1066+195A>G
NM_001206977.2:c.1078+195A>G
NM_001206979.2:c.1078+195A>G
NM_001206992.2:c.1096+195A>G
More... 		06/20/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NR1H4
Accession:NM_001206977
Location:INTRON

Gene Symbol:NR1H4
Accession:NM_001206993
Location:INTRON

Gene Symbol:NR1H4
Accession:XM_006719719
Location:INTRON

Gene Symbol:NR1H4
Accession:XM_047429944
Location:INTRON

Gene Symbol:NR1H4
Accession:XM_011539041
Location:INTRON

Gene Symbol:NR1H4
Accession:NM_001206979
Location:INTRON

Gene Symbol:NR1H4
Accession:NM_001206992
Location:INTRON

Gene Symbol:NR1H4
Accession:NM_005123
Location:INTRON

Gene Symbol:NR1H4
Accession:XM_011539040
Location:INTRON

Gene Symbol:NR1H4
Accession:NM_001206978
Location:INTRON

Gene Symbol:NR1H4
Accession:XM_047429943
Location:INTRON

Gene Symbol:NR1H4
Accession:NR_135146
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001638631 CLINVAR
dbSNP (RS) rs17030297 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NR1H4 CLINVAR
OMIM 603826 CLINVAR