rs9288322 Rat Genome Database

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Variant: rs9288322 -  Homo sapiens

RGD ID: 11551974
RS ID: rs9288322
ClinVar ID: CV250499
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 202,592,514
GRCh38 2 201,727,791
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_008775.1:g.58382G>A
NC_000002.12:g.201727791C>T
NC_000002.11:g.202592514C>T
NM_020919.4:c.2842-16G>A
More... 		11/19/2020 intron variant benign AllHighlyPenetrant; Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis; none provided; Spastic paralysis, infantile onset ascending
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV250499HumanHereditary Spastic Paralysis, Infantile Onset Ascending  IAGP 8554872ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysisClinVarPMID:25741868 and PMID:28492532
Gene Symbol:ALS2
Accession:XM_006712655
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712654
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:NM_020919
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001410975
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004572
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445224
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

.
PMID:25741868   PMID:28492532  



1 to 10 of 10 rows
Database
Acc Id
Source(s)
ClinVar RCV000253757 CLINVAR
  RCV001515527 CLINVAR
  RCV001675754 CLINVAR
dbSNP (RS) rs9288322 CLINVAR
MedGen C2931441 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 606352 CLINVAR
  607225 CLINVAR
1 to 10 of 10 rows