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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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