Variant #0000000438 (NC_000021.8:g.33036145C>G, SOD1(NM_000454.4):c.115C>G)

Individual ID 00000438
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33036145C>G
Reference Rosen DR1, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al.(1993)
DB-ID SOD1_000015 See all 7 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0 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 ./. 2 c.115C>G r.(?) p.(Leu39Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000438 ? ? SOD1 1 Y Yang