Variant #0000000323 (NC_000001.10:g.227071449G>A, PSEN2(NM_000447.2):c.185G>A)

Individual ID 00000323
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.227071449G>A
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 PSEN2_000001 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00856 View details
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     
PSEN2 NM_000447.2 ./. 5 c.185G>A r.(?) p.(Arg62His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000323 ? ? PSEN2 1 Y Yang