RGD:401961320 Rat Genome Database

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Variant: RGD:401961320 -  Homo sapiens

RGD ID: 401961320
ClinVar ID: CV2844705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 6,714,260
GRCh38 19 6,714,249
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009557.1:g.11403G>T
NC_000019.10:g.6714249C>A
NC_000019.9:g.6714260C>A
NM_000064.4:c.600-1G>T
More... 		01/12/2023 splice acceptor variant likely pathogenic none provided

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 RCV003480503 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR