RGD:12741838 Rat Genome Database

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Variant: RGD:12741838 -  Homo sapiens

RGD ID: 12741838
RS ID: rs1057518693
ClinVar ID: CV361234
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL9A3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 61,452,884
GRCh38 20 62,821,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016353.1:g.9471T>C
NC_000020.11:g.62821532T>C
NC_000020.10:g.61452884T>C
NM_001853.4:c.369+2T>C
More... 		05/27/2022 splice donor variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL9A3
Accession:XM_047439894
Location:5UTRS;INTRON

Gene Symbol:COL9A3
Accession:XM_047439893
Location:INTRON

Gene Symbol:COL9A3
Accession:XM_017027666
Location:INTRON

Gene Symbol:COL9A3
Accession:XM_047439895
Location:INTRON

Gene Symbol:COL9A3
Accession:NM_001853
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000415238 CLINVAR
  RCV002521463 CLINVAR
dbSNP (RS) rs1057518693 CLINVAR
MedGen C1832998 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL9A3 CLINVAR
OMIM 120270 CLINVAR
  600969 CLINVAR