rs372400121 Rat Genome Database

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Variant: rs372400121 -  Homo sapiens

RGD ID: 15101576
RS ID: rs372400121
ClinVar ID: CV731313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  LOC127890268  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 6,697,654
GRCh38 19 6,697,643
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.6697654G>A
NC_000019.9:g.6697654G>A
NM_000064.3:c.2583+9C>T
NM_000064.4:c.2583+9C>T
More... 		02/02/2018 intron variant benign|likely benign|uncertain significance 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 RCV000892309 CLINVAR
  RCV001129456 CLINVAR
  RCV001129457 CLINVAR
  RCV001129458 CLINVAR
dbSNP (RS) rs372400121 CLINVAR
MedGen C1969651 CLINVAR
  C2752037 CLINVAR
  C3151071 CLINVAR
  C3661900 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR
  611378 CLINVAR
  612925 CLINVAR
  613779 CLINVAR