RGD:11604286 Rat Genome Database

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Variant: RGD:11604286 -  Homo sapiens

RGD ID: 11604286
RS ID: rs372210548
ClinVar ID: CV312815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXT1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 119,123,785
GRCh38 8 118,111,546
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_493t1:c.-500T>G
LRG_493:g.5274T>G
NG_007455.2:g.5274T>G
NC_000008.11:g.118111546A>C
More...
01/12/2018 5 prime utr variant benign|likely benign DIAPHYSEAL ACLASIS; Hereditary multiple exostoses; Hereditary multiple exostosis; Hereditary multiple osteochondromas; MULTIPLE CARTILAGINOUS EXOSTOSES; Multiple exostoses; MULTIPLE OSTEOCHONDROMAS; OSTEOCHONDROMATOSIS
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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000307984 CLINVAR
dbSNP (RS) rs372210548 CLINVAR
MedGen C0015306 CLINVAR
NCBI Gene EXT1 CLINVAR
OMIM 133700 CLINVAR
  608177 CLINVAR
SNOMED CT 254044004 CLINVAR