rs1565684864 Rat Genome Database

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Variant: rs1565684864 -  Homo sapiens

RGD ID: 151718679
RS ID: rs1565684864
ClinVar ID: CV1458735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 48,381,493
GRCh38 12 47,987,710
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001844.5:c.1123-1G>C
NM_033150.3:c.916-1G>C
NG_008072.1:g.21793G>C
NC_000012.12:g.47987710C>G
More... 		07/31/2021 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
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_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018831
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_047428315
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20179744   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002003322 CLINVAR
dbSNP (RS) rs1565684864 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR