RGD:150472938 Rat Genome Database

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Variant: RGD:150472938 -  Homo sapiens

RGD ID: 150472938
RS ID: rs13028444
ClinVar ID: CV1281322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,876,138
GRCh38 2 189,011,412
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.4255-216A>C
LRG_3:g.42040A>C
NG_007404.1:g.42040A>C
NC_000002.12:g.189011412A>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 RCV001713449 CLINVAR
dbSNP (RS) rs13028444 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR