Variant #0000004977 (NC_000014.8:g.73640302G>A, PSEN1(NM_000021.3):c.367G>A)

Individual ID 00004976
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.73640302G>A
Reference Bagyinszky E et al. (2016)
DB-ID PSEN1_000180
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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     
PSEN1 NM_000021.3 ./. 5 c.367G>A r.(?) p.(Glu123Lys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004977 ? ? PSEN1 1 XY Liu