Variant #0000829764 (NC_000001.10:g.(?_145516400)_(145518273_145522513)del, PEX11B(NM_003846.2):c.(?_-1)_(374+1_375-1)del)

Individual ID 00396461
Chromosome 1
Allele Parent #1
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.(?_145516400)_(145518273_145522513)del
DNA change (hg38) g.(?_145918689)_(145912567_145916816)del
Published as g.145516396_145518277del
ISCN -
DB-ID PEX11B_000009
Variant remarks -
Reference PubMed: Ellingford 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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     
PEX11B NM_003846.2 +?/. - c.(?_-1)_(374+1_375-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000397701 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen