RGD:28883200 Rat Genome Database

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Variant: RGD:28883200 -  Homo sapiens

RGD ID: 28883200
RS ID: rs1417576506
ClinVar ID: CV887223
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,871,658
GRCh38 2 189,006,932
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_3t1:c.3202-5C>T
LRG_3:g.37560C>T
NG_007404.1:g.37560C>T
NM_000090.3:c.3202-5C>T
More... 		01/12/2018 intron variant uncertain significance 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 Information

Database Acc Id Source(s)
ClinVar RCV001136855 CLINVAR
dbSNP (RS) rs1417576506 CLINVAR
MedGen C0268338 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR