Variant #0000000548 (NC_000021.8:g.33039603A>C, SOD1(NM_000454.4):c.272A>C)

Individual ID 00000548
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33039603A>C
Reference Battistini S1, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V(2005)
DB-ID SOD1_000071 See all 22 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00147 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
SOD1 NM_000454.4 ./. 4 c.272A>C r.(?) p.(Asp91Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000548 ? ? SOD1 1 Y Yang