RGD:15102028 Rat Genome Database

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Variant: RGD:15102028 -  Homo sapiens

RGD ID: 15102028
RS ID: rs113553192
ClinVar ID: CV730822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AC079385.1  RFX4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 106,995,127
GRCh38 12 106,601,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_213594.3:c.44-7448A>G
NM_001206691.2:c.70+3A>G
NG_047074.1:g.23443A>G
NC_000012.12:g.106601349A>G
More... 		06/08/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RFX4
Accession:NM_001206691
Location:INTRON

Gene Symbol:RFX4
Accession:NM_213594
Location:INTRON

Gene Symbol:RFX4
Accession:NM_032491
Location:INTRON

Gene Symbol:AC079385.1
Accession:NR_040246
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000892398 CLINVAR
dbSNP (RS) rs113553192 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 100287944 CLINVAR
  RFX4 CLINVAR
OMIM 603958 CLINVAR