Variant #0000017199 (NC_000023.10:g.15863501C>A, AP1S2(NM_003916.3):c.426+1G>T)

Individual ID 00000406
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15863501C>A
DNA change (hg38) g.15845378C>A
Published as -
ISCN -
DB-ID AP1S2_000010
Variant remarks -
Reference PubMed: Cacciagli 2014, OMIM:var0006
ClinVar ID -
dbSNP ID rs587777542
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laurent Villard
Database submission license No license selected
Created by Laurent Villard
Date created 2013-04-08 12:02:25 +02:00 (CEST)
Date last edited 2014-12-12 16:29:00 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AP1S2 NM_003916.3 +?/. 4 c.426+1G>T r.spl? p.(Val97_Glu142del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000433 DNA SEQ - - AP1S2 1 Laurent Villard