RGD:13498567 Rat Genome Database

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Variant: RGD:13498567 -  Homo sapiens

RGD ID: 13498567
RS ID: rs1555787262
ClinVar ID: CV479688
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,150,231
GRCh38 19 11,039,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_878t1:c.4171-1752T>C
NC_000019.10:g.11039555T>C
NC_000019.9:g.11150231T>C
NM_001128847.4:c.4072-1752T>C
More... 		04/26/2016 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCA4
Accession:XM_047439244
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439249
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439246
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001411150
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128847
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451663
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439247
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451667
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001374457
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439243
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128844
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439248
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439251
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128845
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451658
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128849
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128848
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_003072
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128846
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_011528198
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439250
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_006722846
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451661
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001387283
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000573360 CLINVAR
dbSNP (RS) rs1555787262 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene SMARCA4 CLINVAR
OMIM 603254 CLINVAR
SNOMED CT 699346009 CLINVAR