RGD:14714850 Rat Genome Database

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Variant: RGD:14714850 -  Homo sapiens

RGD ID: 14714850
RS ID: rs773142036
ClinVar ID: CV650938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 202,611,285
GRCh38 2 201,746,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020919.4:c.1998+4A>G
NG_008775.1:g.39611A>G
NC_000002.12:g.201746562T>C
NC_000002.11:g.202611285T>C
More...
08/14/2018 intron variant uncertain significance 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_006712655
Location:5UTRS;INTRON

Gene Symbol:ALS2
Accession:NM_020919
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712654
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004572
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445224
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001410975
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000798363 CLINVAR
dbSNP (RS) rs773142036 CLINVAR
MedGen C2931441 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 606352 CLINVAR
  607225 CLINVAR