RGD:11618558 Rat Genome Database

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Variant: RGD:11618558 -  Homo sapiens

RGD ID: 11618558
RS ID: rs149582526
ClinVar ID: CV336233
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL9A3  LOC127894170  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 61,449,904
GRCh38 20 62,818,552
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.6491C>T
NC_000020.11:g.62818552C>T
NC_000020.10:g.61449904C>T
NP_001844.3:p.Pro61Leu
More... 		11/04/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance none provided

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

Gene Symbol:COL9A3
Accession:XM_017027666
Location:EXON

Gene Symbol:COL9A3
Accession:XM_047439895
Location:EXON

Gene Symbol:COL9A3
Accession:NM_001853
Location:EXON

Gene Symbol:COL9A3
Accession:XM_047439893
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000658917 CLINVAR
dbSNP (RS) rs149582526 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL9A3 CLINVAR
OMIM 120270 CLINVAR