RGD:14720066 Rat Genome Database

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Variant: RGD:14720066 -  Homo sapiens

RGD ID: 14720066
RS ID: rs886039353
ClinVar ID: CV651749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 119,122,323
GRCh38 8 118,110,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000127.3:c.962+1G>A
LRG_493t1:c.962+1G>A
LRG_493:g.6736G>A
NG_007455.2:g.6736G>A
More... 		06/24/2019 splice donor variant pathogenic Hereditary multiple exostoses; Hereditary multiple exostosis; Hereditary multiple osteochondromas; MULTIPLE CARTILAGINOUS EXOSTOSES; Multiple exostoses; MULTIPLE OSTEOCHONDROMAS
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EXT1
Accession:NM_000127
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10679937   PMID:11391482   PMID:15253765   PMID:16199547   PMID:16283885   PMID:19810120   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000796470 CLINVAR
dbSNP (RS) rs886039353 CLINVAR
MedGen C0015306 CLINVAR
NCBI Gene EXT1 CLINVAR
OMIM 133700 CLINVAR
  608177 CLINVAR
SNOMED CT 254044004 CLINVAR