RGD:10048763 Rat Genome Database

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Variant: RGD:10048763 -  Homo sapiens

RGD ID: 10048763
RS ID: rs202054108
ClinVar ID: CV194565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC127816664  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,696,913
GRCh38 9 134,805,067
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.3204+3G>A
NG_008030.1:g.168262G>A
NC_000009.12:g.134805067G>A
NC_000009.11:g.137696913G>A
More... 		10/08/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 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:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000178422 CLINVAR
  RCV000576402 CLINVAR
  RCV001507248 CLINVAR
  RCV001704851 CLINVAR
  RCV002314644 CLINVAR
dbSNP (RS) rs202054108 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  C4225429 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR