RGD:8574533 Rat Genome Database

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Variant: RGD:8574533 -  Homo sapiens

RGD ID: 8574533
RS ID: rs587779497
ClinVar ID: CV107014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,854,177
GRCh38 2 188,989,451
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.690+2T>A
LRG_3:g.20079T>A
NG_007404.1:g.20079T>A
NC_000002.12:g.188989451T>A
More... 		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:9399899   PMID:10706896  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000087505 CLINVAR
dbSNP (RS) rs587779497 CLINVAR
MedGen C0268338 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR