Variant #0000872369 (NC_000021.8:g.27347435C>T, NM_000484.3:c.1406G>A (APP))

Individual ID 00413239
Chromosome 21
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.27347435C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID APP_000077
Variant remarks homozygous in unaffected brother
Reference PubMed: Sheffer 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-07-17 10:38:58 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APP NM_000484.3 ?/. - c.1406G>A r.(?) p.(Arg469His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000414511 DNA;RNA SEQ-NG blood WES INPP4A 6 Frederike Leonie Harms


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