RGD:127329254 Rat Genome Database

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Variant: RGD:127329254 -  Homo sapiens

RGD ID: 127329254
RS ID: rs543664811
ClinVar ID: CV1112122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 202,592,419
GRCh38 2 201,727,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_654t1:c.2912+9G>A
NM_020919.4:c.2912+9G>A
LRG_654:g.58477G>A
NG_008775.1:g.58477G>A
More... 		06/08/2020 intron variant likely benign Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis; Spastic paralysis, infantile onset ascending
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALS2
Accession:XM_047445224
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004572
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712654
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:NM_020919
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712655
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001410975
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001470072 CLINVAR
dbSNP (RS) rs543664811 CLINVAR
MedGen C2931441 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 606352 CLINVAR
  607225 CLINVAR