Variant #0000686233 (NC_000011.9:g.45937018dup, PEX16(NM_057174.2):c.460+1dup)

Individual ID 00309912
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.45937018dup
DNA change (hg38) -
Published as 460+2insG
ISCN -
DB-ID PEX16_000021
Variant remarks -
Reference PubMed: Ebberink 2011
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_057174.2 +/. - c.460+1dup r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311058 DNA SEQ - - PEX16 1 Johan den Dunnen