RGD:8574547 Rat Genome Database

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Variant: RGD:8574547 -  Homo sapiens

RGD ID: 8574547
RS ID: rs587779573
ClinVar ID: CV107030
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,862,480
GRCh38 2 188,997,754
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.1923+1G>A
LRG_3:g.28382G>A
NG_007404.1:g.28382G>A
NC_000002.12:g.188997754G>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:10706896  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000087522 CLINVAR
dbSNP (RS) rs587779573 CLINVAR
MedGen C0268338 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR