SOD1 superoxide dismutase 1

Information
Symbol
SOD1
Type
protein-coding
Description
superoxide dismutase 1
Entrez Gene ID
6647
Genome
hg19
Position
chr21:33,032,006-33,041,244
Genome
hg38
Position
chr21:31,659,693-31,668,931
MIM
147450 OMIM
HGNC
HGNC:11179 HGNC
Ensembl
ENSG00000142168 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 46 128
Likely pathogenic 0 114
Benign 0 46
Likely benign 0 98
Conflicting classifications of pathogenicity 0 34
Uncertain significance 0 116
Ranking
ClinVar
0
0
126
308
18
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ALS
SYNONYM ALS1
SYNONYM HEL-S-44
SYNONYM IPOA
SYNONYM SOD
SYNONYM STAHP
SYNONYM hSod1
SYNONYM homodimer
MIM 147450 OMIM
HGNC HGNC:11179 HGNC
Ensembl ENSG00000142168 Ensembl
AllianceGenome HGNC:11179
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000389995.4 hg38 chr21 31,659,666 31,668,931 9,266
ENST00000270142.11 hg38 chr21 31,659,693 31,668,931 9,239
ENST00000389995.4 hg19 chr21 33,031,979 33,041,244 9,266
ENST00000270142.11 hg19 chr21 33,032,006 33,041,244 9,239
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