Variant #0000081524 (NC_000023.10:g.152996242_153031950del, ABCD1(NM_000033.3):c.1081+1375_*22761del)

Individual ID 00052135
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.152996242_153031950del
DNA change (hg38) g.153730787_153766495del
Published as del ex3-10 and PLXNB3 ex1-2
ISCN -
DB-ID ABCD1_000036
Variant remarks deletion fuses ABCD1 and PLXNB3 gene (transcript not analysed)
Reference PubMed: Matsumoto 2005, Journal: Matsumoto 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
ABCD1 NM_000033.3 +/. 2i_10_ c.1081+1375_*22761del r.? p.?
PLXNB3 NM_005393.2 +/. _1_2i c.-33583_46-378del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052083 DNA PCR;SEQ - - ABCD1, PLXNB3 1 Johan den Dunnen