RGD:12741672 Rat Genome Database

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Variant: RGD:12741672 -  Homo sapiens

RGD ID: 12741672
RS ID: rs1057518771
ClinVar ID: CV360909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 137,623,973
GRCh38 9 134,732,127
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.1389G>A
NG_008030.1:g.95322G>A
NC_000009.12:g.134732127G>A
NC_000009.11:g.137623973G>A
More... 		02/28/2017 synonymous variant uncertain significance Anomalous ventricular excitation syndrome; Arthralgia; Arthralgias; Auriculoventricular accessory pathway syndrome; Cardiac rhythm disease; Dislocation of joint; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; False bundle branch block syndrome; Hyperextensible hand joints; Joint dislocation; Joint laxity; none provided; pain in joint; Wolff-Parkinson-White pattern; WPW syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532   PMID:28914264  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000414877 CLINVAR
  RCV000479910 CLINVAR
  RCV001199297 CLINVAR
  RCV003758762 CLINVAR
dbSNP (RS) rs1057518771 CLINVAR
MedGen C0003811 CLINVAR
  C0268335 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  194200 CLINVAR
SNOMED CT 698247007 CLINVAR
  83470009 CLINVAR