RGD:401962559 Rat Genome Database

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Variant: RGD:401962559 -  Homo sapiens

RGD ID: 401962559
ClinVar ID: CV2845205
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 24,742,458
GRCh38 7 24,702,839
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1428t1:c.1184-6C>T
NM_001127453.2:c.1184-6C>T
NM_004403.3:c.1184-6C>T
NM_001127454.2:c.692-6C>T
More... 		01/17/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:NM_001127453
Location:INTRON

Gene Symbol:GSDME
Accession:NM_004403
Location:INTRON

Gene Symbol:GSDME
Accession:XM_017011802
Location:INTRON

Gene Symbol:GSDME
Accession:XM_024446670
Location:INTRON

Gene Symbol:GSDME
Accession:NM_001127454
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003482666 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GSDME CLINVAR
OMIM 608798 CLINVAR