RGD:11593004 Rat Genome Database

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Variant: RGD:11593004 -  Homo sapiens

RGD ID: 11593004
RS ID: rs534617327
ClinVar ID: CV302580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 24,738,312
GRCh38 7 24,698,693
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011593.1:g.64328T>G
NC_000007.14:g.24698693A>C
NC_000007.13:g.24738312A>C
NM_001127453.2:c.*333T>G
More... 		01/13/2018 3 prime utr variant uncertain significance Deafness, autosomal dominant 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:NM_001127454
Location:3UTRS;EXON

Gene Symbol:GSDME
Accession:NM_001127453
Location:3UTRS;EXON

Gene Symbol:GSDME
Accession:XM_024446670
Location:3UTRS;EXON

Gene Symbol:GSDME
Accession:XM_017011802
Location:3UTRS;EXON

Gene Symbol:GSDME
Accession:NM_004403
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000344395 CLINVAR
dbSNP (RS) rs534617327 CLINVAR
MedGen C1832932 CLINVAR
NCBI Gene DFNA5 CLINVAR
OMIM 600994 CLINVAR
  608798 CLINVAR