RGD:13821034 Rat Genome Database

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Variant: RGD:13821034 -  Homo sapiens

RGD ID: 13821034
RS ID: rs35002351
ClinVar ID: CV563726
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 9 137,704,450
GRCh38 9 134,812,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.134812606del
LRG_737t1:c.3746del
NG_008030.1:g.175801del
NC_000009.11:g.137704452del
More... 		11/21/2018 frameshift variant pathogenic 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:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23587214   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002233285 CLINVAR
dbSNP (RS) rs35002351 CLINVAR
MedGen C0268335 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR