RGD:13537654 Rat Genome Database

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Variant: RGD:13537654 -  Homo sapiens

RGD ID: 13537654
RS ID: rs769694875
ClinVar ID: CV503064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,534,030
GRCh38 9 134,642,184
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.-4C>G
NM_001278074.1:c.-4C>G
NG_008030.1:g.5379C>G
NC_000009.12:g.134642184C>G
More... 		02/10/2021 5 prime utr variant benign|likely benign|uncertain significance 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; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:XM_017014266
Location:5UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:5UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_000093
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001169656 CLINVAR
  RCV001704726 CLINVAR
  RCV002270727 CLINVAR
  RCV002270728 CLINVAR
  RCV002341543 CLINVAR
dbSNP (RS) rs769694875 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  C4225429 CLINVAR
  C4707243 CLINVAR
  C5543412 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR