RGD:156105482 Rat Genome Database

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Variant: RGD:156105482 -  Homo sapiens

RGD ID: 156105482
ClinVar ID: CV2061194
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: CTGGTCCTT
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 9 137,713,951 - 137,713,960
GRCh38 9 134,822,105 - 134,822,114
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_737t1:c.4566_4574del
LRG_737t2:c.4566_4574del
NM_000093.5:c.4566_4574del
NM_001278074.1:c.4566_4574del
More... 		07/02/2022 inframe_deletion uncertain significance EDS I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2061194HumanEhlers-Danlos syndrome classic type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1ClinVarPMID:19344236|PMID:22696272|PMID:23587214|PMID:28492532|PMID:7695699|PMID:8218237


.
PMID:7695699   PMID:8218237   PMID:19344236   PMID:22696272   PMID:23587214   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002824712 CLINVAR
MedGen C0268335 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR