rs886051193 Rat Genome Database

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Variant: rs886051193 -  Homo sapiens

RGD ID: 11644958
RS ID: rs886051193
ClinVar ID: CV340618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DUOX2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 45,392,940
GRCh38 15 45,100,742
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.18420C>T
NC_000015.10:g.45100742G>A
NC_000015.9:g.45392940G>A
NM_001363711.2:c.3005+13C>T
More... 		01/12/2018 intron variant uncertain significance HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:DUOX2
Accession:NM_001363711
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000262944 CLINVAR
dbSNP (RS) rs886051193 CLINVAR
MedGen C1846632 CLINVAR
NCBI Gene DUOX2 CLINVAR
OMIM 606759 CLINVAR
  607200 CLINVAR