RGD:14728154 Rat Genome Database

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Variant: RGD:14728154 -  Homo sapiens

RGD ID: 14728154
RS ID: rs28763879
ClinVar ID: CV658739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 189,870,376
GRCh38 2 189,005,650
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007404.1:g.36278T>C
NC_000002.12:g.189005650T>C
NC_000002.11:g.189870376T>C
NM_000090.4:c.3039+193T>C
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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000834652 CLINVAR
dbSNP (RS) rs28763879 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR