rs910306671 Rat Genome Database

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Variant: rs910306671 -  Homo sapiens

RGD ID: 28883488
RS ID: rs910306671
ClinVar ID: CV901488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,735,014
GRCh38 9 134,843,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_737t2:c.*865T>A
NM_001278074.1:c.*865T>A
LRG_737t1:c.*865T>A
NM_000093.5:c.*865T>A
More... 		06/30/2017 3 prime utr variant benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV901488HumanEhlers-Danlos syndrome classic type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic typeClinVar 
Gene Symbol:COL5A1
Accession:NM_000093
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

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

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Database
Acc Id
Source(s)
ClinVar RCV001168224 CLINVAR
dbSNP (RS) rs910306671 CLINVAR
MedGen C4225429 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR