RGD:153304473 Rat Genome Database

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Variant: RGD:153304473 -  Homo sapiens

RGD ID: 153304473
RS ID: rs192083283
ClinVar ID: CV1687089
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1R  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 7,241,086
GRCh38 12 7,088,490
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354346.2:c.1080+120A>G
LRG_1321:g.9118A>G
NG_062465.1:g.9118A>G
NC_000012.12:g.7088490T>C
More...
05/01/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:C1R
Accession:NM_001354346
Location:INTRON

Gene Symbol:C1R
Accession:NM_001733
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002262377 CLINVAR
dbSNP (RS) rs192083283 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C1R CLINVAR
OMIM 613785 CLINVAR