RGD:153347383 Rat Genome Database

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Variant: RGD:153347383 -  Homo sapiens

RGD ID: 153347383
RS ID: rs786205101
ClinVar ID: CV1694610
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,619,110
GRCh38 9 134,727,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t1:c.655-2A>T
NM_001278074.1:c.655-2A>T
LRG_737:g.90459A>T
NG_008030.1:g.90459A>T
More... 		03/14/2019 splice acceptor variant likely pathogenic ED syndrome; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12145749   PMID:25741868   PMID:28492532   PMID:34265140  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002278009 CLINVAR
  RCV002363741 CLINVAR
  RCV003594181 CLINVAR
dbSNP (RS) rs786205101 CLINVAR
MedGen C0013720 CLINVAR
  C0268335 CLINVAR
  C4707243 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 398114001 CLINVAR
  83470009 CLINVAR