RGD:11626371 Rat Genome Database

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Variant: RGD:11626371 -  Homo sapiens

RGD ID: 11626371
RS ID: rs12690214
ClinVar ID: CV352450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRWD3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 79,926,627
GRCh38 X 80,671,128
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.143607A>C
NC_000023.11:g.80671128T>G
NC_000023.10:g.79926627T>G
NM_153252.5:c.*5481A>C
More... 		06/14/2016 3 prime utr variant benign MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY; X-linked intellectual developmental disorder-93
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BRWD3
Accession:NM_153252
Location:3UTRS;EXON

Gene Symbol:BRWD3
Accession:XM_017029384
Location:3UTRS;EXON

Gene Symbol:BRWD3
Accession:XM_005262113
Location:3UTRS;EXON

Gene Symbol:BRWD3
Accession:XM_047441957
Location:INTRON

Gene Symbol:BRWD3
Accession:XM_017029385
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000262882 CLINVAR
dbSNP (RS) rs12690214 CLINVAR
MedGen C1970841 CLINVAR
NCBI Gene BRWD3 CLINVAR
OMIM 300553 CLINVAR
  300659 CLINVAR