RGD:13539498 Rat Genome Database

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Variant: RGD:13539498 -  Homo sapiens

RGD ID: 13539498
RS ID: rs373994011
ClinVar ID: CV499805
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 189,868,978
GRCh38 2 189,004,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_3t1:c.2824-5A>G
LRG_3:g.34880A>G
NG_007404.1:g.34880A>G
NC_000002.12:g.189004252A>G
More... 		06/12/2022 intron variant likely benign 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
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000613365 CLINVAR
  RCV002532783 CLINVAR
dbSNP (RS) rs373994011 CLINVAR
MedGen C0268338 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR