RGD:401918900 Rat Genome Database

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Variant: RGD:401918900 -  Homo sapiens

RGD ID: 401918900
ClinVar ID: CV2831286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL2A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 48,379,694
GRCh38 12 47,985,911
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.1374+1G>A
NM_001844.5:c.1581+1G>A
NG_008072.1:g.23592G>A
NC_000012.12:g.47985911C>T
More... 		11/27/2023 splice donor variant likely pathogenic SED congenita; Spondyloepiphyseal dysplasia, congenital type
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:NM_001844
Location:INTRON

Gene Symbol:COL2A1
Accession:NM_033150
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018829
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018830
Location:INTRON

Gene Symbol:COL2A1
Accession:XM_017018828
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003444051 CLINVAR
MedGen C2745959 CLINVAR
NCBI Gene COL2A1 CLINVAR
OMIM 120140 CLINVAR
  183900 CLINVAR