RGD:11548087 Rat Genome Database

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Variant: RGD:11548087 -  Homo sapiens

RGD ID: 11548087
RS ID: rs547809613
ClinVar ID: CV254561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 48,387,649
GRCh38 12 47,993,866
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.15637C>G
NC_000012.12:g.47993866G>C
NC_000012.11:g.48387649G>C
NM_033150.3:c.664-4C>G
More... 		intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248629 CLINVAR
  RCV001465006 CLINVAR
dbSNP (RS) rs547809613 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR