Variant #0000686581 (NC_000017.10:g.33902992_33902993del, NM_000286.2:c.888_889del (PEX12))

Individual ID 00310099
Chromosome 17
Allele Maternal (confirmed)
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.33902992_33902993del
DNA change (hg38) -
Published as 887_888delTC
ISCN -
DB-ID PEX12_000008 See all 7 reported entries
Variant remarks -
Reference PubMed: Konkolova 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-09-08 16:28:29 +02:00 (CEST)
Date last edited 2020-09-08 18:15:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX12 NM_000286.2 +/. - c.888_889del r.(?) p.(Leu297Thrfs*12)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311247 DNA SEQ - - PEX12 5 Johan den Dunnen


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