RGD:329847726 Rat Genome Database

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Variant: RGD:329847726 -  Homo sapiens

RGD ID: 329847726
ClinVar ID: CV2524475
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 118,847,793
GRCh38 8 117,835,554
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.1057-3C>G
LRG_493:g.281266C>G
NG_007455.2:g.281266C>G
NC_000008.11:g.117835554G>C
More... 		05/02/2023 intron variant likely pathogenic|uncertain significance Hereditary multiple exostoses; Hereditary multiple exostosis; Hereditary multiple osteochondromas; MULTIPLE CARTILAGINOUS EXOSTOSES; Multiple exostoses; Multiple osteochondromas; none provided
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:9536098   PMID:17576681   PMID:19810120   PMID:23439489   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003227367 CLINVAR
  RCV003497982 CLINVAR
MedGen C0015306 CLINVAR
  C3661900 CLINVAR
NCBI Gene EXT1 CLINVAR
OMIM 133700 CLINVAR
  608177 CLINVAR
SNOMED CT 254044004 CLINVAR