RGD:15201848 Rat Genome Database

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Variant: RGD:15201848 -  Homo sapiens

RGD ID: 15201848
RS ID: rs113761790
ClinVar ID: CV760346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DUOX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 45,456,968
GRCh38 15 45,164,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017434.5:c.4534-9C>T
NM_175940.3:c.4534-9C>T
NC_000015.10:g.45164770C>T
NC_000015.9:g.45456968C>T
More... 		06/18/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DUOX1
Accession:XM_047432691
Location:INTRON

Gene Symbol:DUOX1
Accession:XM_047432690
Location:INTRON

Gene Symbol:DUOX1
Accession:XM_011521681
Location:INTRON

Gene Symbol:DUOX1
Accession:NM_017434
Location:INTRON

Gene Symbol:DUOX1
Accession:NM_175940
Location:INTRON

Gene Symbol:DUOX1
Accession:XM_011521682
Location:INTRON

Gene Symbol:DUOX1
Accession:XM_047432692
Location:INTRON

Gene Symbol:DUOX1
Accession:XM_047432693
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000913264 CLINVAR
dbSNP (RS) rs113761790 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DUOX1 CLINVAR
OMIM 606758 CLINVAR