RGD:11543308 Rat Genome Database

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Variant: RGD:11543308 -  Homo sapiens

RGD ID: 11543308
RS ID: rs117347229
ClinVar ID: CV257388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL9A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 61,452,837
GRCh38 20 62,821,485
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.9424G>A
NC_000020.11:g.62821485G>A
NC_000020.10:g.61452837G>A
NM_001853.3:c.346-22G>A
More... 		07/27/2018 intron variant benign AllHighlyPenetrant; none provided

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

Gene Symbol:COL9A3
Accession:XM_017027666
Location:INTRON

Gene Symbol:COL9A3
Accession:XM_047439893
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242286 CLINVAR
  RCV001618419 CLINVAR
dbSNP (RS) rs117347229 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL9A3 CLINVAR
OMIM 120270 CLINVAR