Variant #0000687358 (NC_000006.11:g.42946679C>T, PEX6(NM_000287.3):c.210G>A)

Individual ID 00310655
Chromosome 6
Allele Unknown
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.42946679C>T
DNA change (hg38) g.42978941C>T
Published as -
ISCN -
DB-ID PEX6_000235
Variant remarks -
Reference PubMed: Yik 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/116 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0061 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.210G>A r.(?) p.(Gly70=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311807 DNA SEQ - - PEX6 1 Johan den Dunnen