Variant #0000048389 (NC_000023.10:g.15870494G>A, AP1S2(NM_003916.3):c.154C>T)

Individual ID 00025493
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15870494G>A
DNA change (hg38) g.15852371G>A
Published as -
ISCN -
DB-ID AP1S2_000002 See all 4 reported entries
Variant remarks -
Reference PubMed: Borck 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-12-12 16:53:33 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AP1S2 NM_003916.3 +/. 2 c.154C>T r.(?) p.(Arg52*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025497 DNA SEQ - - AP1S2 1 Johan den Dunnen