RGD:11614528 Rat Genome Database

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Variant: RGD:11614528 -  Homo sapiens

RGD ID: 11614528
RS ID: rs406514
ClinVar ID: CV334508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 6,702,598
GRCh38 19 6,702,587
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.2246-8C>T
LRG_27:g.23065C>T
NG_009557.1:g.23065C>T
NC_000019.10:g.6702587G>A
More... 		07/14/2021 intron variant benign AHUS, SUSCEPTIBILITY TO, 5; AllHighlyPenetrant; 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000277187 CLINVAR
  RCV000297613 CLINVAR
  RCV000369463 CLINVAR
  RCV001519272 CLINVAR
  RCV001528595 CLINVAR
dbSNP (RS) rs406514 CLINVAR
MedGen C1969651 CLINVAR
  C2752037 CLINVAR
  C3151071 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR
  611378 CLINVAR
  612925 CLINVAR
  613779 CLINVAR