Variant #0000787349 (NC_000006.11:g.42946827A>T, PEX6(NM_000287.3):c.62T>A)

Individual ID 00374804
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946827A>T
DNA change (hg38) g.42979089A>T
Published as -
ISCN -
DB-ID PEX6_000238
Variant remarks -
Reference PubMed: Ganapathy 2019
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 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 ?/. 1 c.62T>A r.(?) p.(Val21Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375998 DNA SEQ-NG - TruSight One panel PEX6 1 Johan den Dunnen