RGD:150425261 Rat Genome Database

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Variant: RGD:150425261 -  Homo sapiens

RGD ID: 150425261
RS ID: rs79654091
ClinVar ID: CV1184246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 2,088,720
GRCh38 9 2,088,720
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_882t1:c.2883+107G>C
NM_001289397.2:c.2709+107G>C
NM_001289396.1:c.2883+107G>C
NM_003070.5:c.2883+107G>C
More... 		08/08/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SMARCA2
Accession:NM_003070
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_139045
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289397
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289396
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289398
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289399
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289400
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001557773 CLINVAR
dbSNP (RS) rs79654091 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMARCA2 CLINVAR
OMIM 600014 CLINVAR