RGD:15161977 Rat Genome Database

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Variant: RGD:15161977 -  Homo sapiens

RGD ID: 15161977
RS ID: rs377063305
ClinVar ID: CV689689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 189,856,206
GRCh38 2 188,991,480
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000090.4:c.853-7T>C
NG_007404.1:g.22108T>C
NC_000002.12:g.188991480T>C
NC_000002.11:g.189856206T>C
More... 		11/21/2020 intron variant likely benign 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; none provided; Polymicrogyria with or without vascular-type ehlers-danlos syndrome
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000869330 CLINVAR
  RCV001664507 CLINVAR
  RCV002478977 CLINVAR
dbSNP (RS) rs377063305 CLINVAR
MedGen C0268338 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
  618343 CLINVAR
SNOMED CT 17025000 CLINVAR