Variant #0000001433 (NC_000003.11:g.87302890G>A, CHMP2B(NM_014043.3):c.560G>A)

Individual ID 00001433
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.87302890G>A
Reference Ferrari R1, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P.(2010)
DB-ID CHMP2B_000003
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00153 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 ./. 6 c.560G>A r.(?) p.(Ser187Asn) 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     
0000001433 ? ? CHMP2B 1 Y Yang