Variant #0000004845 (NC_000001.10:g.227079516C>T, PSEN2(NM_000447.2):c.1043C>T)

Individual ID 00004845
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.227079516C>T
Reference Blauwendraat C et al.(2016)
DB-ID PSEN2_000019
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PSEN2 NM_000447.2 ./. 11 c.1043C>T r.(?) p.(Pro348Leu) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004845 ? ? PSEN2 1 XY Liu