Variant #0000833218 (NC_000001.10:g.145517280C>T, PEX11B(NM_003846.2):c.64C>T)

Individual ID 00399129
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.145517280C>T
DNA change (hg38) g.145917809G>A
Published as -
ISCN -
DB-ID PEX11B_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Ebberink 2012
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.64C>T r.(?) p.(Gln22Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400374 DNA SEQ;SEQ-NG - 17-gene panel PEX11B 1 Johan den Dunnen