RGD:28907839 Rat Genome Database

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Variant: RGD:28907839 -  Homo sapiens

RGD ID: 28907839
RS ID: rs1439169186
ClinVar ID: CV880725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  LOC127890905  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 18,901,356
GRCh38 19 18,790,547
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.217+15G>A
NG_007070.1:g.5759G>A
NC_000019.10:g.18790547C>T
NC_000019.9:g.18901356C>T
More... 		01/12/2018 intron variant uncertain significance 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 Information

Database Acc Id Source(s)
ClinVar RCV001127819 CLINVAR
  RCV001127820 CLINVAR
dbSNP (RS) rs1439169186 CLINVAR
MedGen C0410538 CLINVAR
  C1838280 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 132400 CLINVAR
  177170 CLINVAR
  600310 CLINVAR
SNOMED CT 22567005 CLINVAR