RGD:12886543 Rat Genome Database

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Variant: RGD:12886543 -  Homo sapiens

RGD ID: 12886543
RS ID: rs774849517
ClinVar ID: CV396983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,697,059
GRCh38 9 134,805,213
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
NM_001278074.1:c.3257C>T
NG_008030.1:g.168408C>T
NC_000009.12:g.134805213C>T
NC_000009.11:g.137697059C>T
More... 		12/25/2023 missense variant likely pathogenic|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; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27011056   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000506345 CLINVAR
  RCV001508653 CLINVAR
  RCV002230381 CLINVAR
  RCV002323718 CLINVAR
dbSNP (RS) rs774849517 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR