RGD:8599960 Rat Genome Database

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Variant: RGD:8599960 -  Homo sapiens

RGD ID: 8599960
RS ID: rs121912459
ClinVar ID: CV29822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 33,039,620
GRCh38 21 31,667,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008689.1:g.12686G>A
NC_000021.9:g.31667307G>A
NC_000021.8:g.33039620G>A
NP_000445.1:p.Asp97Asn
More... 		11/20/2018 missense|missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOD1
Accession:NM_000454
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEER
HVGDLGNVTADKDGVANVSIEDSVISLSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ*
Variant Samples
Additional References at PubMed
PMID:10809943   PMID:11220750   PMID:23280792   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015906 CLINVAR
  RCV000993041 CLINVAR
dbSNP (RS) rs121912459 CLINVAR
MedGen C5686324 CLINVAR
  CN517202 CLINVAR
NCBI Gene SOD1 CLINVAR
OMIM 147450 CLINVAR
OMIM Allele 147450.0032 CLINVAR