RGD:11647643 Rat Genome Database

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Variant: RGD:11647643 -  Homo sapiens

RGD ID: 11647643
RS ID: rs886057286
ClinVar ID: CV337626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 24,176,480
GRCh38 22 23,834,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_520:g.52331C>T
NG_009303.1:g.52331C>T
NC_000022.11:g.23834293C>T
NC_000022.10:g.24176480C>T
More...
06/14/2016 3 prime utr variant uncertain significance Familial Posterior Fossa Brain Tumor of Infancy; Neurilemmomatosis congenital cutaneous
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCB1
Accession:NM_003073
Location:3UTRS;EXON

Gene Symbol:SMARCB1
Accession:NM_001007468
Location:3UTRS;EXON

Gene Symbol:SMARCB1
Accession:NM_001317946
Location:3UTRS;EXON

Gene Symbol:SMARCB1
Accession:NM_001362877
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000277702 CLINVAR
  RCV000313009 CLINVAR
dbSNP (RS) rs886057286 CLINVAR
MedGen C1836327 CLINVAR
  C4048809 CLINVAR
NCBI Gene SMARCB1 CLINVAR
OMIM 162091 CLINVAR
  601607 CLINVAR
  609322 CLINVAR