RGD:11589088 Rat Genome Database

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Variant: RGD:11589088 -  Homo sapiens

RGD ID: 11589088
RS ID: rs144928530
ClinVar ID: CV302579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 24,738,299
GRCh38 7 24,698,680
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.64341G>C
NC_000007.14:g.24698680C>G
NC_000007.13:g.24738299C>G
NM_001127453.2:c.*346G>C
More...
01/13/2018 3 prime utr variant likely benign|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_004403
Location:3UTRS;EXON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000308064 CLINVAR
dbSNP (RS) rs144928530 CLINVAR
MedGen C1832932 CLINVAR
NCBI Gene DFNA5 CLINVAR
OMIM 600994 CLINVAR
  608798 CLINVAR