rs371069460 Rat Genome Database

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Variant: rs371069460 -  Homo sapiens

RGD ID: 28882763
RS ID: rs371069460
ClinVar ID: CV901158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLE1  LOC101929270  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 131,303,985
GRCh38 9 128,541,706
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.128541706G>A
NM_001003722.1:c.*536G>A
LRG_484t1:c.*536G>A
NG_012073.1:g.42015G>A
More... 		01/13/2018 3 prime utr variant uncertain significance CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; Lethal arthrogryposis with anterior horn cell disease; Lethal autosomal recessive syndrome of multiple congenital contractures; Multiple contracture syndrome, Finnish type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLE1
Accession:XM_006717060
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_011518550
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_024447519
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_047423236
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:NM_001003722
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_047423234
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_011518549
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_047423235
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:NM_001411013
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:NM_001499
Location:INTRON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167999 CLINVAR
  RCV001168000 CLINVAR
dbSNP (RS) rs371069460 CLINVAR
MedGen C1854664 CLINVAR
  C5193016 CLINVAR
NCBI Gene GLE1 CLINVAR
  LOC101929270 CLINVAR
OMIM 253310 CLINVAR
  603371 CLINVAR
  611890 CLINVAR