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
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