RGD:14729060 Rat Genome Database

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Variant: RGD:14729060 -  Homo sapiens

RGD ID: 14729060
RS ID: rs80263080
ClinVar ID: CV658676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,850,205
GRCh38 2 188,985,479
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000090.3:c.334-186C>T
NG_007404.1:g.16107C>T
NC_000002.12:g.188985479C>T
NC_000002.11:g.189850205C>T
More...
06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL3A1
Accession:NM_000090
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000835052 CLINVAR
dbSNP (RS) rs80263080 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR