Variant #0000686584 (NC_000006.11:g.42946490C>A, PEX6(NM_000287.3):c.399G>T)

Individual ID 00310099
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946490C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX6_000146 See all 4 reported entries
Variant remarks -
Reference PubMed: Konkolova 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.37641 View details
Owner Johan den Dunnen
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 -/. - c.399G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311247 DNA SEQ - - PEX12 5 Johan den Dunnen