RGD:150408282 Rat Genome Database

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Variant: RGD:150408282 -  Homo sapiens

RGD ID: 150408282
RS ID: rs189367
ClinVar ID: CV1182718
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 6,710,572
GRCh38 19 6,710,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000064.3:c.1686+78C>T
NG_009557.1:g.15091C>T
NC_000019.10:g.6710561G>A
NM_000064.4:c.1686+78C>T
More... 		07/14/2021 intron variant benign 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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001554506 CLINVAR
  RCV001554507 CLINVAR
  RCV001709741 CLINVAR
dbSNP (RS) rs189367 CLINVAR
MedGen C1969651 CLINVAR
  C3151071 CLINVAR
  C3661900 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR
  611378 CLINVAR
  613779 CLINVAR