RGD:11589380 Rat Genome Database

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Variant: RGD:11589380 -  Homo sapiens

RGD ID: 11589380
RS ID: rs114458388
ClinVar ID: CV286635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 202,570,191
GRCh38 2 201,705,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008775.1:g.80705A>G
NC_000002.12:g.201705468T>C
NC_000002.11:g.202570191T>C
NM_020919.4:c.4581-7A>G
More... 		01/30/2021 intron variant benign|likely benign AllHighlyPenetrant; ALS, JUVENILE; ALS2-Related Spectrum Disorders; Amyotrophic lateral sclerosis type 2; Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis; none provided; Spastic paralysis, infantile onset ascending

Variant Details
Variant Transcripts
Gene Symbol:ALS2
Accession:NM_020919
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712654
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445224
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001410975
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712655
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004572
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000310484 CLINVAR
  RCV000365254 CLINVAR
  RCV000861830 CLINVAR
  RCV001571615 CLINVAR
  RCV001660693 CLINVAR
dbSNP (RS) rs114458388 CLINVAR
MedGen C1859807 CLINVAR
  C2931441 CLINVAR
  C3661900 CLINVAR
  CN169291 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 205100 CLINVAR
  606352 CLINVAR
  607225 CLINVAR