RGD:11666783 Rat Genome Database

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Variant: RGD:11666783 -  Homo sapiens

RGD ID: 11666783
RS ID: rs555849430
ClinVar ID: CV353823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 119,124,061
GRCh38 8 118,111,822
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_493:g.4998T>C
NG_007455.2:g.4998T>C
NC_000008.11:g.118111822A>G
NC_000008.10:g.119124061A>G
 06/14/2016 2kb upstream variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EXT1
Accession:NM_000127
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000380289 CLINVAR
dbSNP (RS) rs555849430 CLINVAR
MedGen CN239374 CLINVAR
NCBI Gene EXT1 CLINVAR
OMIM 608177 CLINVAR