RGD:405164979 Rat Genome Database

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Variant: RGD:405164979 -  Homo sapiens

RGD ID: 405164979
ClinVar ID: CV2960700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DUOX2  LOC127829455  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 45,404,918
GRCh38 15 45,112,720
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363711.2:c.161-2A>T
NM_014080.5:c.161-2A>T
NG_016992.1:g.3396T>A
NG_130937.1:g.412T>A
More... 		12/03/2023 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:DUOX2
Accession:NM_014080
Location:INTRON

Gene Symbol:DUOX2
Accession:NM_001363711
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12110737   PMID:16199547   PMID:18765513   PMID:21565790   PMID:24423310   PMID:24735383   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003674961 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DUOX2 CLINVAR
OMIM 606759 CLINVAR