RGD:13435721 Rat Genome Database

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Variant: RGD:13435721 -  Homo sapiens

RGD ID: 13435721
RS ID: rs11792894
ClinVar ID: CV433431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,709,780
GRCh38 9 134,817,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737:g.181129T>C
NM_001278074.1:c.4230+103T>C
NG_008030.1:g.181129T>C
NC_000009.12:g.134817934T>C
More... 		07/03/2018 intron variant benign 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:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000505883 CLINVAR
  RCV001672815 CLINVAR
  RCV002270600 CLINVAR
  RCV002270601 CLINVAR
dbSNP (RS) rs11792894 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  C4225429 CLINVAR
  C5543412 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR