rs758000012 Rat Genome Database

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Variant: rs758000012 -  Homo sapiens

RGD ID: 12849772
RS ID: rs758000012
ClinVar ID: CV374519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DUOX2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 45,391,682
GRCh38 15 45,099,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009447.1:g.19678A>C
NC_000015.10:g.45099484T>G
NC_000015.9:g.45391682T>G
NM_001363711.2:c.3416-2A>C
More... 		12/28/2023 splice acceptor variant likely pathogenic|conflicting interpretations of pathogenicity 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 RCV000435690 CLINVAR
dbSNP (RS) rs758000012 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DUOX2 CLINVAR
OMIM 606759 CLINVAR