Variant #0000686675 (NC_000006.11:g.(42937726_42941740)_(42942777_42946006)del, PEX6(NM_000287.3):c.(882+1_883-1)_(1130+1_1131-1)del)

Individual ID 00310167
Chromosome 6
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.(42937726_42941740)_(42942777_42946006)del
DNA change (hg38) -
Published as 883_1130del
ISCN -
DB-ID PEX6_000072
Variant remarks -
Reference PubMed: Ebberink 2010
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 Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/. 1i_3i c.(882+1_883-1)_(1130+1_1131-1)del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311316 DNA SEQ - - PEX6 1 Nancy Braverman