RGD:150521004 Rat Genome Database

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Variant: RGD:150521004 -  Homo sapiens

RGD ID: 150521004
RS ID: rs866316633
ClinVar ID: CV1290775
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 189,858,086
GRCh38 2 188,993,360
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.1051-1G>C
LRG_3:g.23988G>C
NG_007404.1:g.23988G>C
NC_000002.12:g.188993360G>C
More... 		11/03/2023 splice acceptor variant likely pathogenic 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
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:16199547   PMID:24922459   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001732438 CLINVAR
  RCV003771887 CLINVAR
dbSNP (RS) rs866316633 CLINVAR
MedGen C0268338 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR