rs1054683729 Rat Genome Database

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Variant: rs1054683729 -  Homo sapiens

RGD ID: 28890298
RS ID: rs1054683729
ClinVar ID: CV883324
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 202,566,272
GRCh38 2 201,701,549
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_012654.1:g.2146A>G
NG_008775.1:g.84624A>G
NC_000002.12:g.201701549T>C
NC_000002.11:g.202566272T>C
More... 		01/12/2018 3 prime utr variant uncertain significance ALS, JUVENILE; ALS2-related condition; ALS2-Related Disorders; ALS2-Related Spectrum Disorders; Amyotrophic lateral sclerosis type 2
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV883324Humanamyotrophic lateral sclerosis type 2  IAGP 8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2ClinVar 
CV883324HumanJuvenile Amyotrophic Lateral Sclerosis  IAGP 8554872ClinVar Annotator: match by term: ALS and JUVENILEClinVar 
Gene Symbol:ALS2
Accession:XM_017004572
Location:3UTRS;EXON

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

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

Gene Symbol:ALS2
Accession:NM_020919
Location:3UTRS;EXON

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

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

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001138987 CLINVAR
  RCV001138988 CLINVAR
dbSNP (RS) rs1054683729 CLINVAR
MedGen C1859807 CLINVAR
  CN169291 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 205100 CLINVAR
  606352 CLINVAR