RGD:150469621 Rat Genome Database

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Variant: RGD:150469621 -  Homo sapiens

RGD ID: 150469621
RS ID: rs12693525
ClinVar ID: CV1259689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 189,857,993
GRCh38 2 188,993,267
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.1051-94T>C
LRG_3:g.23895T>C
NG_007404.1:g.23895T>C
NC_000002.12:g.188993267T>C
More... 		06/26/2018 intron variant 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 RCV001683990 CLINVAR
dbSNP (RS) rs12693525 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR