RGD:28885463 Rat Genome Database

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Variant: RGD:28885463 -  Homo sapiens

RGD ID: 28885463
RS ID: rs368945793
ClinVar ID: CV903350
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC127816664  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,696,807
GRCh38 9 134,804,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000093.5:c.3115-14G>A
NG_008030.1:g.168156G>A
LRG_737t1:c.3115-14G>A
LRG_737t2:c.3115-14G>A
More... 		03/15/2022 intron variant benign|likely benign 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
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001168783 CLINVAR
  RCV002067830 CLINVAR
  RCV002271186 CLINVAR
  RCV003331056 CLINVAR
dbSNP (RS) rs368945793 CLINVAR
MedGen C0268335 CLINVAR
  C4225429 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR