Variant #0000817727 (NC_000001.10:g.145522663del, PEX11B(NM_003846.2):c.524del)

Individual ID 00387703
Chromosome 1
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.145522663del
DNA change (hg38) g.145912421del
Published as -
ISCN -
DB-ID PEX11B_000008
Variant remarks -
Reference PubMed: Hu 2019
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.524del r.(?) p.(Gly175AspfsTer14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388934 DNA SEQ;SEQ-NG - - PEX11B 1 Johan den Dunnen