Variant #0000686631 (NC_000006.11:g.42946578del, PEX6(NM_000287.3):c.311del)

Individual ID 00310123
Chromosome 6
Allele Parent #1
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.42946578del
DNA change (hg38) -
Published as 311delG
ISCN -
DB-ID PEX6_000051 See all 2 reported entries
Variant remarks no variant 2nd chromosome reported
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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 +/. 1 c.311del r.(?) p.(Gly104Valfs*22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311272 DNA SEQ - - PEX6 1 Nancy Braverman