RGD:11546893 Rat Genome Database

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Variant: RGD:11546893 -  Homo sapiens

RGD ID: 11546893
RS ID: rs747677530
ClinVar ID: CV253427
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,677,826
GRCh38 9 134,785,980
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t1:c.2593-15T>C
LRG_737t2:c.2593-15T>C
NM_001278074.1:c.2593-15T>C
NG_008030.1:g.149175T>C
More... 		10/25/2017 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247056 CLINVAR
  RCV002057305 CLINVAR
  RCV002270103 CLINVAR
dbSNP (RS) rs747677530 CLINVAR
MedGen C0268335 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR