RGD:407424762 Rat Genome Database

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Variant: RGD:407424762 -  Homo sapiens

RGD ID: 407424762
ClinVar ID: CV3407431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPING1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 57,365,795
GRCh38 11 57,598,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.57598322G>T
NC_000011.9:g.57365795G>T
NG_009625.1:g.5769G>T
NM_000062.3:c.51+1G>T
More... 		06/30/2024 splice donor variant pathogenic Deficiency of C1 esterase inhibitor
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:21934598   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV004584277 CLINVAR
MedGen C2717906 CLINVAR
NCBI Gene SERPING1 CLINVAR
OMIM 106100 CLINVAR
  606860 CLINVAR