rs114171895 Rat Genome Database

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Variant: rs114171895 -  Homo sapiens

RGD ID: 11610899
RS ID: rs114171895
ClinVar ID: CV317327
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  LOC127816665  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,734,432
GRCh38 9 134,842,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000093.4:c.*283G>A
NM_001278074.1:c.*283G>A
NG_008030.1:g.205781G>A
NC_000009.12:g.134842586G>A
More... 		08/03/2018 3 prime utr variant benign|likely benign EDS I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV317327HumanEhlers-Danlos syndrome arthrochalasia type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7AClinVarPMID:25741868
CV317327HumanEhlers-Danlos syndrome classic type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1ClinVarPMID:25741868
CV317327HumanMultifocal Fibromuscular Dysplasia  IAGP 8554872ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCALClinVarPMID:25741868
Gene Symbol:COL5A1
Accession:NM_001278074
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_000093
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

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

.
PMID:25741868  



1 to 17 of 17 rows
Database
Acc Id
Source(s)
ClinVar RCV000387894 CLINVAR
  RCV001166022 CLINVAR
  RCV001584095 CLINVAR
  RCV002270233 CLINVAR
  RCV002270234 CLINVAR
dbSNP (RS) rs114171895 CLINVAR
MedGen C0268335 CLINVAR
  C3508773 CLINVAR
  C3661900 CLINVAR
  C4225429 CLINVAR
  C5543412 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR
1 to 17 of 17 rows