RGD:14396461 Rat Genome Database

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Variant: RGD:14396461 -  Homo sapiens

RGD ID: 14396461
RS ID: rs1565686170
ClinVar ID: CV612355
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 48,383,010
GRCh38 12 47,989,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033150.3:c.915+1G>C
NM_001844.5:c.1122+1G>C
NG_008072.1:g.20276G>C
NC_000012.12:g.47989227C>G
More... 		12/30/2017 splice donor variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23188137  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000761423 CLINVAR
dbSNP (RS) rs1565686170 CLINVAR
MedGen C0265279 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR
  156550 CLINVAR
SNOMED CT 53974002 CLINVAR