rs869312034 Rat Genome Database

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Variant: rs869312034 -  Homo sapiens

RGD ID: 8566095
RS ID: rs869312034
ClinVar ID: CV32243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,870,986
GRCh38 2 189,006,260
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_3t1:c.3093+1G>A
LRG_3:g.36888G>A
NG_007404.1:g.36888G>A
NC_000002.12:g.189006260G>A
More... 		10/28/2013 splice donor variant pathogenic neonatal/infancy 1-9 / 100 000 Ehlers Danlos syndrome, arterial type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, Sack-Barabas type; Ehlers-Danlos Syndrome Type IV; Ehlers-Danlos syndrome vascular type
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:2365710  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018744 CLINVAR
dbSNP (RS) rs869312034 CLINVAR
MedGen C0268338 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
OMIM Allele 120180.0006 CLINVAR
SNOMED CT 17025000 CLINVAR