RGD:11348367 Rat Genome Database

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Variant: RGD:11348367 -  Homo sapiens

RGD ID: 11348367
RS ID: rs146461106
ClinVar ID: CV240519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 137,698,027
GRCh38 9 134,806,181
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000093.3:c.3259-8C>T
NM_001278074.1:c.3259-8C>T
NG_008030.1:g.169376C>T
NC_000009.12:g.134806181C>T
More... 		03/15/2022 intron variant benign|likely benign childhood|neonatal 1-9 / 100 000 AllHighlyPenetrant; Connective tissue disease; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
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 RCV000226343 CLINVAR
  RCV000659451 CLINVAR
  RCV001722205 CLINVAR
  RCV002270028 CLINVAR
  RCV003955296 CLINVAR
  RCV003987463 CLINVAR
dbSNP (RS) rs146461106 CLINVAR
MedGen C0009782 CLINVAR
  C0268335 CLINVAR
  C3661900 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR