RGD:28902318 Rat Genome Database

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Variant: RGD:28902318 -  Homo sapiens

RGD ID: 28902318
RS ID: rs1027214857
ClinVar ID: CV883047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL3A1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,876,913
GRCh38 2 189,012,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_3t1:c.*413T>A
NM_000090.4:c.*413T>A
LRG_3:g.42815T>A
NG_007404.1:g.42815T>A
More... 		01/12/2018 3 prime utr 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001143527 CLINVAR
dbSNP (RS) rs1027214857 CLINVAR
MedGen C0268338 CLINVAR
NCBI Gene COL3A1 CLINVAR
OMIM 120180 CLINVAR
  130050 CLINVAR
SNOMED CT 17025000 CLINVAR