rs2132943031 Rat Genome Database

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Variant: rs2132943031 -  Homo sapiens

RGD ID: 151865424
RS ID: rs2132943031
ClinVar ID: CV1357727
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: COL5A1  LOC101448202  LOC127816665  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 9 137,734,044
GRCh38 9 134,842,198
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_737t2:c.5415del
NG_008030.1:g.205396del
NC_000009.12:g.134842201del
NC_000009.11:g.137734043del
More... 		07/25/2021 frameshift variant pathogenic 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)
CV1357727HumanEhlers-Danlos syndrome classic type 1  IAGP 8554872ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1ClinVarPMID:28492532


.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001905823 CLINVAR
dbSNP (RS) rs2132943031 CLINVAR
MedGen C0268335 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR