RGD:150408279 Rat Genome Database

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Variant: RGD:150408279 -  Homo sapiens

RGD ID: 150408279
RS ID: rs432823
ClinVar ID: CV1182717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 6,702,246
GRCh38 19 6,702,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000064.4:c.2355-23A>G
NC_000019.9:g.6702246T>C
NM_000064.3:c.2355-23A>G
NC_000019.10:g.6702235T>C
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 RCV001554504 CLINVAR
  RCV001554505 CLINVAR
  RCV001673209 CLINVAR
dbSNP (RS) rs432823 CLINVAR
MedGen C1969651 CLINVAR
  C3151071 CLINVAR
  C3661900 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR
  611378 CLINVAR
  613779 CLINVAR