RGD:13822690 Rat Genome Database

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Variant: RGD:13822690 -  Homo sapiens

RGD ID: 13822690
RS ID: rs1568809149
ClinVar ID: CV571472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 33,036,152
GRCh38 21 31,663,839
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_652t1:c.122A>G
LRG_652:g.9218A>G
NG_008689.1:g.9218A>G
NC_000021.9:g.31663839A>G
More... 		03/31/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOD1
Accession:NM_000454
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTGGLHGFHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEER
HVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ*
Variant Samples
Additional References at PubMed
PMID:24325798   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000697630 CLINVAR
dbSNP (RS) rs1568809149 CLINVAR
MedGen C1862939 CLINVAR
NCBI Gene SOD1 CLINVAR
OMIM 105400 CLINVAR
  147450 CLINVAR