RGD:13619530 Rat Genome Database

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Variant: RGD:13619530 -  Homo sapiens

RGD ID: 13619530
RS ID: rs1185878570
ClinVar ID: CV532511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,097,685
GRCh38 19 10,987,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128849.1:c.859+6C>T
NC_000019.10:g.10987009C>T
NC_000019.9:g.11097685C>T
NM_001128847.4:c.859+6C>T
More... 		10/27/2020 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCA4
Accession:NM_001128849
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451661
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451658
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439251
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128847
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451663
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_006722846
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439249
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439247
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128845
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001411150
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128844
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_003072
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128848
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_011528198
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001374457
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451667
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001387283
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439244
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439246
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439250
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439243
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439248
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128846
Location:INTRON

Gene Symbol:SMARCA4
Accession:NR_164683
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000646800 CLINVAR
dbSNP (RS) rs1185878570 CLINVAR
MedGen C2750074 CLINVAR
NCBI Gene SMARCA4 CLINVAR
OMIM 603254 CLINVAR
  613325 CLINVAR