RGD:11588079 Rat Genome Database

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Variant: RGD:11588079 -  Homo sapiens

RGD ID: 11588079
RS ID: rs41309068
ClinVar ID: CV284685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 202,565,372
GRCh38 2 201,700,649
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.85524C>T
NC_000002.12:g.201700649G>A
NC_000002.11:g.202565372G>A
NM_020919.3:c.*1202C>T
More... 		01/13/2018 3 prime utr variant benign|uncertain significance ALS, JUVENILE; ALS2-Related Spectrum Disorders; Amyotrophic lateral sclerosis type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALS2
Accession:NM_001410975
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:
Accession:
Location:3UTRS;EXON

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

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300059 CLINVAR
  RCV000400706 CLINVAR
dbSNP (RS) rs41309068 CLINVAR
MedGen C1859807 CLINVAR
  CN169291 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 205100 CLINVAR
  606352 CLINVAR