Variant #0000686225 (NC_000011.9:g.45932447A>G, PEX16(NM_057174.2):c.952+2T>C)

Individual ID 00309904
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.45932447A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX16_000002 See all 3 reported entries
Variant remarks -
Reference PubMed: Shimozawa 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_057174.2 +/. - c.952+2T>C r.888_952del p.Glu296fs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311050 DNA;RNA RT-PCR;SEQ - - PEX16 1 Johan den Dunnen