RGD:127324757 Rat Genome Database

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Variant: RGD:127324757 -  Homo sapiens

RGD ID: 127324757
RS ID: rs2153503988
ClinVar ID: CV1160330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,872,873
GRCh38 2 189,008,147
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_3t1:c.3525+5G>A
NM_000090.4:c.3525+5G>A
LRG_3:g.38775G>A
NG_007404.1:g.38775G>A
More... 		04/21/2023 intron variant uncertain significance 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; none provided; 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 RCV001524875 CLINVAR
  RCV001847295 CLINVAR
  RCV004008802 CLINVAR
dbSNP (RS) rs2153503988 CLINVAR
MedGen C0268338 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR