RGD:13704406 Rat Genome Database

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Variant: RGD:13704406 -  Homo sapiens

RGD ID: 13704406
RS ID: rs760304144
ClinVar ID: CV537708
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 189,928,762
GRCh38 2 189,064,036
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000393.5:c.1717-3C>T
NG_011799.3:g.166266C>T
NC_000002.12:g.189064036G>A
NC_000002.11:g.189928762G>A
More...
11/01/2016 intron variant uncertain significance Connective tissue disease; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1
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:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000659475 CLINVAR
  RCV002235528 CLINVAR
dbSNP (RS) rs760304144 CLINVAR
MedGen C0009782 CLINVAR
  C0268335 CLINVAR
NCBI Gene COL5A2 CLINVAR
OMIM 120190 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR