RGD:8574423 Rat Genome Database

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Variant: RGD:8574423 -  Homo sapiens

RGD ID: 8574423
RS ID: rs587779461
ClinVar ID: CV106898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,866,176
GRCh38 2 189,001,450
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.2337G>A
LRG_3:g.32078G>A
NG_007404.1:g.32078G>A
NC_000002.12:g.189001450G>A
More... 		04/01/2016 synonymous variant pathogenic|likely 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; 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:7665911   PMID:24922459  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000087390 CLINVAR
  RCV002453417 CLINVAR
dbSNP (RS) rs587779461 CLINVAR
MedGen C0268338 CLINVAR
  C4707243 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR