Variant #0000000259 (NC_000014.8:g.73637692G>C, PSEN1(NM_000021.3):c.275G>C)

Individual ID 00000259
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.73637692G>C
Reference Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014)
DB-ID PSEN1_000004 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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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.275G>C r.(?) p.(Cys92Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000259 ? ? PSEN1 1 Y Yang