RGD:150485595 Rat Genome Database

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Variant: RGD:150485595 -  Homo sapiens

RGD ID: 150485595
RS ID: rs575388784
ClinVar ID: CV1262126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 24,745,619
GRCh38 7 24,706,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1428:g.57021T>A
NG_011593.1:g.57021T>A
NC_000007.14:g.24706000A>T
NC_000007.13:g.24745619A>T
More... 		11/10/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:NM_001127454
Location:INTRON

Gene Symbol:GSDME
Accession:NM_004403
Location:INTRON

Gene Symbol:GSDME
Accession:NM_001127453
Location:INTRON

Gene Symbol:GSDME
Accession:XM_017011802
Location:INTRON

Gene Symbol:GSDME
Accession:XM_024446670
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001686817 CLINVAR
dbSNP (RS) rs575388784 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GSDME CLINVAR
OMIM 608798 CLINVAR