Variant #0000002454 (NC_000014.9:g.73170995G>T, PSEN1(NM_000021.3):c.286G>T)

Individual ID 00000539
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.73170995G>T
Published as -
Reference Vo Van Giau et al.(2019)
DB-ID PSEN1_000001 See all 2 reported entries
dbSNP ID rs63750601
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PSEN1 NM_000021.3 +/. - c.286G>T - r.(?) p.(Val96Phe) Known pathogenic mutation (EOAD)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000587 DNA SEQ PSEN1 1 Nur Aisyah Athirah