RGD:11590114 Rat Genome Database

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Variant: RGD:11590114 -  Homo sapiens

RGD ID: 11590114
RS ID: rs570467727
ClinVar ID: CV283548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,898,350
GRCh38 2 189,033,624
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.189033624C>T
NC_000002.11:g.189898350C>T
NM_000393.3:c.*446G>A
NM_000393.5:c.*446G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign Ehlers-Danlos syndrome type 2 (formerly); Ehlers-Danlos syndrome, type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A2
Accession:XM_047443252
Location:3UTRS;EXON

Gene Symbol:COL5A2
Accession:NM_000393
Location:3UTRS;EXON

Gene Symbol:COL5A2
Accession:XM_047443251
Location:3UTRS;EXON

Gene Symbol:COL5A2
Accession:XM_011510573
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316020 CLINVAR
  RCV001143627 CLINVAR
dbSNP (RS) rs570467727 CLINVAR
MedGen C0268336 CLINVAR
  C3508773 CLINVAR
NCBI Gene COL5A2 CLINVAR
OMIM 120190 CLINVAR
  130010 CLINVAR
SNOMED CT 20766005 CLINVAR