RGD:405179784 Rat Genome Database

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Variant: RGD:405179784 -  Homo sapiens

RGD ID: 405179784
ClinVar ID: CV3018738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,715,310
GRCh38 9 134,823,464
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t1:c.4693_4694insT
LRG_737t2:c.4693_4694insT
NM_000093.5:c.4693_4694insT
NM_001278074.1:c.4693_4694insT
More... 		05/20/2023 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 Samples
Additional References at PubMed
PMID:23587214   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003759287 CLINVAR
MedGen C0268335 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR