Variant #0000687359 (NC_000006.11:g.42946654C>G, PEX6(NM_000287.3):c.235G>C)

Individual ID 00310656
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.42946654C>G
DNA change (hg38) g.42978916C>G
Published as -
ISCN -
DB-ID GNMT_000006
Variant remarks -
Reference PubMed: Yik 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.02
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02464 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.235G>C r.(?) p.(Ala79Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311808 DNA SEQ - - PEX6 1 Johan den Dunnen