RGD:150506401 Rat Genome Database

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Variant: RGD:150506401 -  Homo sapiens

RGD ID: 150506401
RS ID: rs3736489
ClinVar ID: CV1213771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 189,867,844
GRCh38 2 189,003,118
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000090.4:c.2553+56T>A
LRG_3:g.33746T>A
NG_007404.1:g.33746T>A
NC_000002.12:g.189003118T>A
More... 		08/18/2019 intron variant 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 RCV001596028 CLINVAR
dbSNP (RS) rs3736489 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR