RGD:8574695 Rat Genome Database

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Variant: RGD:8574695 -  Homo sapiens

RGD ID: 8574695
RS ID: rs587779684
ClinVar ID: CV107190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 189,867,790
GRCh38 2 189,003,064
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.2553+2T>C
LRG_3:g.33692T>C
NG_007404.1:g.33692T>C
NC_000002.12:g.189003064T>C
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 RCV000087681 CLINVAR
dbSNP (RS) rs587779684 CLINVAR
MedGen C0268338 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR