rs1336481358 Rat Genome Database

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Variant: rs1336481358 -  Homo sapiens

RGD ID: 14393164
RS ID: rs1336481358
ClinVar ID: CV610536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLE1  LOC101929270  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 131,301,893
GRCh38 9 128,539,614
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_484t1:c.1882-2A>G
NM_001499.2:c.1882-2A>G
LRG_484:g.39923A>G
NG_012073.1:g.39923A>G
More... 		07/12/2021 splice acceptor variant pathogenic CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; Lethal arthrogryposis with anterior horn cell disease; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLE1
Accession:NM_001003722
Location:INTRON

Gene Symbol:GLE1
Accession:NM_001499
Location:INTRON

Gene Symbol:GLE1
Accession:XM_047423236
Location:INTRON

Gene Symbol:GLE1
Accession:XM_024447519
Location:INTRON

Gene Symbol:GLE1
Accession:XM_047423234
Location:INTRON

Gene Symbol:GLE1
Accession:XM_006717060
Location:INTRON

Gene Symbol:GLE1
Accession:XM_011518550
Location:INTRON

Gene Symbol:GLE1
Accession:XM_047423235
Location:INTRON

Gene Symbol:GLE1
Accession:NM_001411013
Location:INTRON

Gene Symbol:GLE1
Accession:XM_011518549
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LOC101929270
Accession:NR_188457
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:27684565   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000758084 CLINVAR
  RCV001855902 CLINVAR
dbSNP (RS) rs1336481358 CLINVAR
MedGen C3661900 CLINVAR
  C5193016 CLINVAR
NCBI Gene GLE1 CLINVAR
  LOC101929270 CLINVAR
OMIM 603371 CLINVAR
  611890 CLINVAR
OMIM Allele 603371.0006 CLINVAR