RGD:11630639 Rat Genome Database

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Variant: RGD:11630639 -  Homo sapiens

RGD ID: 11630639
RS ID: rs1057515995
ClinVar ID: CV352955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRWD3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 79,926,594
GRCh38 X 80,671,095
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.143640T>C
NC_000023.11:g.80671095A>G
NC_000023.10:g.79926594A>G
NM_153252.5:c.*5514T>C
More...
06/14/2016 3 prime utr variant uncertain significance 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_005262113
Location:3UTRS;EXON

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

Gene Symbol:BRWD3
Accession:XM_017029385
Location:INTRON

Gene Symbol:BRWD3
Accession:XM_047441957
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000355293 CLINVAR
dbSNP (RS) rs1057515995 CLINVAR
MedGen C1970841 CLINVAR
NCBI Gene BRWD3 CLINVAR
OMIM 300553 CLINVAR
  300659 CLINVAR