RGD:11628727 Rat Genome Database

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Variant: RGD:11628727 -  Homo sapiens

RGD ID: 11628727
RS ID: rs11569565
ClinVar ID: CV349443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 6,678,474
GRCh38 19 6,678,463
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_27:g.47189C>T
NG_009557.1:g.47189C>T
NC_000019.10:g.6678463G>A
NC_000019.9:g.6678474G>A
More... 		12/05/2020 intron variant benign AHUS, SUSCEPTIBILITY TO, 5; Atypical hemolytic-uremic syndrome 5; Complement component 3 deficiency, autosomal recessive; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C3
Accession:NM_000064
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000307471 CLINVAR
  RCV000343663 CLINVAR
  RCV000399993 CLINVAR
  RCV001521400 CLINVAR
dbSNP (RS) rs11569565 CLINVAR
MedGen C1969651 CLINVAR
  C2752037 CLINVAR
  C3151071 CLINVAR
  C3661900 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR
  611378 CLINVAR
  612925 CLINVAR
  613779 CLINVAR