Variant #0000000605 (NC_000003.11:g.87289899A>G, CHMP2B(NM_014043.3):c.85A>G)

Individual ID 00000605
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.87289899A>G
Reference Parkinson N1, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM; MRC Proteomics in ALS Study; FReJA Consortium.(2006)
DB-ID CHMP2B_000001 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00016 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     
CHMP2B NM_014043.3 ./. 2 c.85A>G r.(?) p.(Ile29Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000605 ? ? CHMP2B 1 Y Yang