RGD:13616185 Rat Genome Database

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Variant: RGD:13616185 -  Homo sapiens

RGD ID: 13616185
RS ID: rs1555836950
ClinVar ID: CV533771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 33,040,869
GRCh38 21 31,668,556
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_652t1:c.443G>A
LRG_652:g.13935G>A
NG_008689.1:g.13935G>A
NC_000021.9:g.31668556G>A
More... 		09/01/2021 missense variant pathogenic|likely pathogenic AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL; 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: G to D (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEER
HVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACDVIGIAQ*
Variant Samples
Additional References at PubMed
PMID:20577002   PMID:23062701   PMID:23280792   PMID:24769475   PMID:25109764   PMID:26467025   PMID:28492532   PMID:29895397  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000644456 CLINVAR
  RCV001289239 CLINVAR
dbSNP (RS) rs1555836950 CLINVAR
MedGen C1862939 CLINVAR
  C3661900 CLINVAR
NCBI Gene SOD1 CLINVAR
OMIM 105400 CLINVAR
  147450 CLINVAR