Individual #00000130

Reference Alzheimer's Disease Collaborative Group.(1995)
Ethnic origin -
Remarks -
Panel size 1
Diseases AD
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000130 ? ? PSEN1 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
14 Unknown ./. g.73640350A>G Alzheimer's Disease Collaborative Group.(1995) PSEN1_000022 - Y Yang PSEN1 5 NM_000021.3:c.415A>G r.(?) p.(Met139Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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