Variant #0000002457 (NC_000014.9:g.73198099G>A, PSEN1(NM_000021.3):c.838G>A)

Individual ID 00000542
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.73198099G>A
Published as -
Reference Vo Van Giau et al.(2019)
DB-ID PSEN1_000002 See all 3 reported entries
dbSNP ID rs80190110
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
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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.838G>A - r.(?) p.(Glu280Lys) Novel mutation, may be involved in EOAD
PSEN1 NM_007318.2 +/. - c.826G>A - r.(?) p.(Glu276Lys) Novel mutation, may be involved in EOAD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000590 DNA SEQ PSEN1 1 Nur Aisyah Athirah