Variant #0000001434 (NC_000003.11:g.87302911C>T, CHMP2B(NM_014043.3):c.581C>T)

Individual ID 00001434
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.87302911C>T
Reference Ghanim M1, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A; French Research Network on FTD and FTD/MND.(2010)
DB-ID CHMP2B_000004
Frequency -
Average frequency (gnomAD v.2.1.1) 5.0E-5 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.581C>T r.(?) p.(Ser194Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001434 ? ? CHMP2B 1 Y Yang