Variant #0000004889 (NC_000014.8:g.73637653C>T, PSEN1(NM_000021.3):c.236C>T)

Individual ID 00004889
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.73637653C>T
Reference Day GS et al. (2016)
DB-ID PSEN1_000001 See all 7 reported entries
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PSEN1 NM_000021.3 ./. 4 c.236C>T r.(?) p.(Ala79Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004889 ? ? PSEN1 1 XY Liu