rs747264682 Rat Genome Database

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Variant: rs747264682 -  Homo sapiens

RGD ID: 153347375
RS ID: rs747264682
ClinVar ID: CV1694605
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,715,258
GRCh38 9 134,823,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000009.12:g.134823412C>G
LRG_737t1:c.4645-4C>G
LRG_737t2:c.4645-4C>G
NM_000093.5:c.4645-4C>G
More... 		05/10/2022 intron variant uncertain significance ED syndrome
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1694605HumanEhlers-Danlos syndrome  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndromeClinVarPMID:25741868
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV002278004 CLINVAR
dbSNP (RS) rs747264682 CLINVAR
MedGen C0013720 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR
SNOMED CT 398114001 CLINVAR