RGD:11638996 Rat Genome Database

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Variant: RGD:11638996 -  Homo sapiens

RGD ID: 11638996
RS ID: rs41317893
ClinVar ID: CV267804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 48,389,485
GRCh38 12 47,995,702
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.13801C>T
NC_000012.12:g.47995702G>A
NC_000012.11:g.48389485G>A
NM_001844.4:c.708+8C>T
More... 		10/02/2018 intron variant benign|likely benign|conflicting interpretations of pathogenicity 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:XM_047428315
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000313602 CLINVAR
  RCV000957058 CLINVAR
  RCV001110297 CLINVAR
  RCV001110298 CLINVAR
dbSNP (RS) rs41317893 CLINVAR
MedGen C2020284 CLINVAR
  C3661900 CLINVAR
  CN043672 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 108300 CLINVAR
  120140 CLINVAR