RGD:401947040 Rat Genome Database

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Variant: RGD:401947040 -  Homo sapiens

RGD ID: 401947040
ClinVar ID: CV2832139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,853,370
GRCh38 2 188,988,644
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.636+1G>T
LRG_3:g.19272G>T
NG_007404.1:g.19272G>T
NC_000002.12:g.188988644G>T
More... 		01/30/2023 splice donor variant likely pathogenic Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


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 RCV003447664 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR