RGD:126748506 Rat Genome Database

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Variant: RGD:126748506 -  Homo sapiens

RGD ID: 126748506
RS ID: rs2055166850
ClinVar ID: CV1034168
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,897,103
GRCh38 19 18,786,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000095.3:c.1255-2A>T
NG_007070.1:g.10012A>T
NC_000019.10:g.18786293T>A
NC_000019.9:g.18897103T>A
More... 		03/20/2020 splice acceptor variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:COMP
Accession:NM_000095
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001351875 CLINVAR
dbSNP (RS) rs2055166850 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 600310 CLINVAR