RGD:11639910 Rat Genome Database

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Variant: RGD:11639910 -  Homo sapiens

RGD ID: 11639910
RS ID: rs200403247
ClinVar ID: CV267844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 48,372,065
GRCh38 12 47,978,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008072.1:g.31221G>A
NC_000012.12:g.47978282C>T
NC_000012.11:g.48372065C>T
NM_033150.3:c.2796+9G>A
More... 		02/12/2019 intron variant benign|likely benign AllHighlyPenetrant; Arthroophthalmopathy, hereditary progressive; none provided; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000329102 CLINVAR
  RCV000841352 CLINVAR
  RCV001112708 CLINVAR
  RCV001114063 CLINVAR
dbSNP (RS) rs200403247 CLINVAR
MedGen C2020284 CLINVAR
  C3661900 CLINVAR
  CN043672 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 108300 CLINVAR
  120140 CLINVAR