RGD:12891356 Rat Genome Database

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Variant: RGD:12891356 -  Homo sapiens

RGD ID: 12891356
RS ID: rs113512079
ClinVar ID: CV392369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 189,931,449
GRCh38 2 189,066,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000002.12:g.189066723C>T
NC_000002.11:g.189931449C>T
NM_000393.3:c.1455+6G>A
NM_000393.5:c.1455+6G>A
More...
02/15/2019 intron variant benign|likely benign|uncertain significance childhood 1-9 / 100 000 AllHighlyPenetrant; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A2
Accession:NM_000393
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_011510573
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_047443252
Location:INTRON

Gene Symbol:COL5A2
Accession:XM_047443251
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000476439 CLINVAR
  RCV001696801 CLINVAR
  RCV003330694 CLINVAR
dbSNP (RS) rs113512079 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A2 CLINVAR
OMIM 120190 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR