RGD:8690603 Rat Genome Database

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Variant: RGD:8690603 -  Homo sapiens

RGD ID: 8690603
RS ID: rs13306272
ClinVar ID: CV140554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,863,389
GRCh38 2 188,998,663
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.1978-11C>T
LRG_3:g.29291C>T
NG_007404.1:g.29291C>T
NC_000002.12:g.188998663C>T
More... 		07/22/2021 intron variant benign infancy 1-9 / 100 000 AllHighlyPenetrant; 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

Variant Details
Variant Transcripts
Gene Symbol:COL3A1
Accession:NM_000090
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124408 CLINVAR
  RCV000316377 CLINVAR
  RCV000775987 CLINVAR
  RCV001588976 CLINVAR
dbSNP (RS) rs13306272 CLINVAR
MedGen C0268338 CLINVAR
  C4707243 CLINVAR
  C5193040 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
  618343 CLINVAR
SNOMED CT 17025000 CLINVAR