RGD:11615832 Rat Genome Database

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Variant: RGD:11615832 -  Homo sapiens

RGD ID: 11615832
RS ID: rs372517964
ClinVar ID: CV327527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 44,254,057
GRCh38 11 44,232,507
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_494t2:c.1806+11G>A
LRG_494t1:c.1905+11G>A
NM_000401.3:c.1905+11G>A
LRG_494:g.141959G>A
More... 		11/28/2021 intron variant benign|likely benign EXOSTOSES, MULTIPLE, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EXT2
Accession:XM_011519950
Location:INTRON

Gene Symbol:EXT2
Accession:NM_001178083
Location:INTRON

Gene Symbol:EXT2
Accession:XM_047426530
Location:INTRON

Gene Symbol:EXT2
Accession:NM_207122
Location:INTRON

Gene Symbol:EXT2
Accession:NM_001389630
Location:INTRON

Gene Symbol:EXT2
Accession:NM_001389628
Location:INTRON

Gene Symbol:EXT2
Accession:XM_047426528
Location:INTRON

Gene Symbol:EXT2
Accession:XM_047426529
Location:INTRON

Gene Symbol:EXT2
Accession:NM_000401
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18976157   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000289298 CLINVAR
  RCV003967875 CLINVAR
dbSNP (RS) rs372517964 CLINVAR
MedGen C1851413 CLINVAR
NCBI Gene EXT2 CLINVAR
OMIM 133701 CLINVAR
  608210 CLINVAR