RGD:14745104 Rat Genome Database

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Variant: RGD:14745104 -  Homo sapiens

RGD ID: 14745104
RS ID: rs55926631
ClinVar ID: CV662387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 24,784,427
GRCh38 7 24,744,808
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.-281-54C>T
NM_001127453.2:c.212-54C>T
NM_004403.3:c.212-54C>T
NG_011593.1:g.18213C>T
More... 		06/16/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:XM_017011802
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:NM_001127454
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:NM_004403
Location:INTRON

Gene Symbol:GSDME
Accession:NM_001127453
Location:INTRON

Gene Symbol:GSDME
Accession:XM_024446670
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000843160 CLINVAR
dbSNP (RS) rs55926631 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GSDME CLINVAR
OMIM 608798 CLINVAR