RGD:8607677 Rat Genome Database

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Variant: RGD:8607677 -  Homo sapiens

RGD ID: 8607677
RS ID: rs397516910
ClinVar ID: CV54005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 24,745,794
GRCh38 7 24,706,175
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.56846A>T
NC_000007.14:g.24706175T>A
NC_000007.13:g.24745794T>A
c.1183+9A>T
More... 		02/12/2018 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Deafness, autosomal dominant 5; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:GSDME
Accession:NM_001127453
Location:INTRON

Gene Symbol:GSDME
Accession:XM_017011802
Location:INTRON

Gene Symbol:GSDME
Accession:NM_004403
Location:INTRON

Gene Symbol:GSDME
Accession:XM_024446670
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037969 CLINVAR
  RCV000287752 CLINVAR
  RCV000897998 CLINVAR
  RCV003924922 CLINVAR
dbSNP (RS) rs397516910 CLINVAR
MedGen C1832932 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DFNA5 CLINVAR
OMIM 600994 CLINVAR
  608798 CLINVAR