Variant #0000000623 (NC_000002.11:g.202622509T>C, ALS2(NM_020919.3):c.1114-27A>G)

Individual ID 00000623
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.202622509T>C
Reference Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002)
DB-ID ALS2_000021
Frequency -
Average frequency (gnomAD v.2.1.1) 0.21809 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     
ALS2 NM_020919.3 ./. 4i c.1114-27A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000623 ? ? ALS2 1 Y Yang