RGD:405243143 Rat Genome Database

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Variant: RGD:405243143 -  Homo sapiens

RGD ID: 405243143
ClinVar ID: CV3043937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 2,096,768
GRCh38 9 2,096,768
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_882t1:c.2991+4C>T
NM_001289397.2:c.2817+4C>T
NM_001289396.1:c.2991+4C>T
NM_003070.5:c.2991+4C>T
More...
07/25/2023 intron variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003719665 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMARCA2 CLINVAR
OMIM 600014 CLINVAR