Variant #0000005019 (NC_000001.10:g.227071448C>T, PSEN2(NM_000447.2):c.184C>T)

Individual ID 00005018
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.227071448C>T
Reference An SS et al. (2016)
DB-ID PSEN2_000021 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00021 View details
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     
PSEN2 NM_000447.2 ./. 5 c.184C>T r.(?) p.(Arg62Cys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005021 ? ? PSEN2 1 XY Liu