RGD:150437544 Rat Genome Database

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Variant: RGD:150437544 -  Homo sapiens

RGD ID: 150437544
RS ID: rs73082019
ClinVar ID: CV1286562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 24,756,643
GRCh38 7 24,717,024
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127454.2:c.205+230T>C
NM_001127453.2:c.697+230T>C
NM_004403.3:c.697+230T>C
LRG_1428:g.45997T>C
More... 		11/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:XM_024446670
Location:INTRON

Gene Symbol:GSDME
Accession:NM_001127454
Location:INTRON

Gene Symbol:GSDME
Accession:NM_001127453
Location:INTRON

Gene Symbol:GSDME
Accession:XM_017011802
Location:INTRON

Gene Symbol:GSDME
Accession:NM_004403
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001724641 CLINVAR
dbSNP (RS) rs73082019 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GSDME CLINVAR
OMIM 608798 CLINVAR