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

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
Date created 2021-03-23 15:27:31 +08:00 (CST)
Date last edited 2021-08-01 13:33:07 +08:00 (CST)
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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