Variant #0000006179 (NC_000021.8:g.33038809G>A, SOD1(NM_000454.4):c.217G>A)

Individual ID 00006193
Chromosome 21
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33038809G>A
Reference R W Orrell, J J Habgood, A Malaspina, J Mitchell, J Greenwood, R J Lane, J S deBelleroche
DB-ID SOD1_000115 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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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 ?/. 3 c.217G>A r.(217g>a) p.(Gly73Ser) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006215 ? ? SOD1 1 XY Liu