RGD:150441331 Rat Genome Database

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Variant: RGD:150441331 -  Homo sapiens

RGD ID: 150441331
RS ID: rs184116413
ClinVar ID: CV1204534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 24,789,725
GRCh38 7 24,750,106
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004403.3:c.-19-313C>G
NM_001127454.2:c.-281-5352C>G
LRG_1428:g.12915C>G
LRG_1428t1:c.-19-313C>G
More...
04/20/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:NM_001127454
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:NM_004403
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:XM_024446670
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:XM_017011802
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:NM_001127453
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001583640 CLINVAR
dbSNP (RS) rs184116413 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GSDME CLINVAR
OMIM 608798 CLINVAR