RGD:156239030 Rat Genome Database

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Variant: RGD:156239030 -  Homo sapiens

RGD ID: 156239030
ClinVar ID: CV2082005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  LOC105369752  LOC127824065  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 48,375,549
GRCh38 12 47,981,766
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.2202+10G>C
NM_001844.5:c.2409+10G>C
NG_008072.1:g.27737G>C
NG_125585.1:g.576C>G
More... 		09/06/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

Gene Symbol:LOC105369752
Accession:XR_944910
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002876527 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR