Variant #0000000411 (NC_000021.8:g.33040861G>T, SOD1(NM_000454.4):c.435G>T)

Individual ID 00000411
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33040861G>T
Reference Ferrera L1, Caponnetto C, Marini V, Rizzi D, Bordo D, Penco S, Amoroso A, Origone P, Garrè C.(2003)
DB-ID SOD1_000005 See all 6 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
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 ./. 5 c.435G>T r.(?) p.(Leu145Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000411 ? ? SOD1 1 Y Yang