rs568221522 Rat Genome Database

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Variant: rs568221522 -  Homo sapiens

RGD ID: 11592192
RS ID: rs568221522
ClinVar ID: CV287065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 202,565,474
GRCh38 2 201,700,751
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_008775.1:g.85422A>G
NC_000002.12:g.201700751T>C
NC_000002.11:g.202565474T>C
NM_020919.4:c.*1100A>G
More... 		06/14/2016 3 prime utr variant uncertain significance ALS2-related condition; ALS2-Related Disorders; ALS2-Related Spectrum Disorders
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV287065Humanamyotrophic lateral sclerosis type 2  IAGP 8554872ClinVar Annotator: match by term: ALS2-Related Spectrum DisordersClinVar 
CV287065HumanAmyotrophic Lateral Sclerosis, Autosomal Recessive  IAGP 8554872ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis and RecessiveClinVar 
Gene Symbol:ALS2
Accession:NM_020919
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:NM_001410975
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_006712655
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_017004572
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_047445224
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_006712654
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV000336245 CLINVAR
  RCV000408039 CLINVAR
dbSNP (RS) rs568221522 CLINVAR
MedGen CN169291 CLINVAR
  CN239196 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 606352 CLINVAR