Variant #0000817735 (NC_000023.10:g.15870594C>T, AP1S2(NM_003916.3):c.54G>A)

Individual ID 00387711
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.15870594C>T
DNA change (hg38) g.15852471C>T
Published as -
ISCN -
DB-ID AP1S2_000021
Variant remarks -
Reference PubMed: Hu 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AP1S2 NM_003916.3 +/. - c.54G>A r.(?) p.(Trp18Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388942 DNA SEQ;SEQ-NG - - AP1S2 1 Johan den Dunnen