RGD:12833181 Rat Genome Database

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Variant: RGD:12833181 -  Homo sapiens

RGD ID: 12833181
RS ID: rs1057523789
ClinVar ID: CV379476
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRWD3  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 79,965,075
GRCh38 X 80,709,576
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021349.1:g.105159A>T
NC_000023.11:g.80709576T>A
NC_000023.10:g.79965075T>A
NM_153252.5:c.2327A>T
More...
11/13/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:BRWD3
Accession:XM_017029385
Location:EXON

Gene Symbol:BRWD3
Accession:NM_153252
Location:EXON

Gene Symbol:BRWD3
Accession:XM_017029384
Location:EXON

Gene Symbol:BRWD3
Accession:XM_047441957
Location:EXON

Gene Symbol:BRWD3
Accession:XM_005262113
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000418033 CLINVAR
dbSNP (RS) rs1057523789 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene BRWD3 CLINVAR
OMIM 300553 CLINVAR