RGD:11626695 Rat Genome Database

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Variant: RGD:11626695 -  Homo sapiens

RGD ID: 11626695
RS ID: rs74432818
ClinVar ID: CV349579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 18,896,470
GRCh38 19 18,785,660
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007070.1:g.10645T>G
NC_000019.10:g.18785660A>C
NC_000019.9:g.18896470A>C
NM_000095.3:c.1668+13T>G
More... 		12/08/2021 intron variant benign|uncertain significance infancy 1-9 / 100 000 none provided; Pseudoachondroplasia; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia
Disease Annotations     Click to see Annotation Detail View


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 RCV000268733 CLINVAR
  RCV000305183 CLINVAR
  RCV001812863 CLINVAR
dbSNP (RS) rs74432818 CLINVAR
MedGen C0410538 CLINVAR
  C1838280 CLINVAR
  C3661900 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 132400 CLINVAR
  177170 CLINVAR
  600310 CLINVAR
SNOMED CT 22567005 CLINVAR