rs571153134 Rat Genome Database

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Variant: rs571153134 -  Homo sapiens

RGD ID: 11605749
RS ID: rs571153134
ClinVar ID: CV317835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,736,443
GRCh38 9 134,844,597
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001278074.1:c.*2294A>T
NG_008030.1:g.207792A>T
NC_000009.12:g.134844597A>T
NC_000009.11:g.137736443A>T
More... 		06/14/2016 3 prime utr variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV317835HumanEhlers-Danlos syndrome arthrochalasia type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7AClinVar 
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 RCV000323460 CLINVAR
dbSNP (RS) rs571153134 CLINVAR
MedGen C3508773 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR