Variant #0000686234 (NC_000011.9:g.45931832del, PEX16(NM_057174.2):c.953-104del)

Individual ID 00309908
Chromosome 11
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.45931832del
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX16_000017 See all 2 reported entries
Variant remarks -
Reference PubMed: Ebberink 2010
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_004813.2 +/. - c.984del r.(?) p.(Ile330Serfs*27)
PEX16 NM_057174.2 +/. - c.953-104del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311054 DNA SEQ - - PEX16 1 Johan den Dunnen