Variant #0000097107 (NC_000006.11:g.42946068G>A, PEX6(NM_000287.3):c.821C>T)

Individual ID 00065273
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42946068G>A
DNA change (hg38) g.42978330G>A
Published as -
ISCN -
DB-ID PEX6_000055 See all 6 reported entries
Variant remarks -
Reference PubMed: Ratbi 2015, Journal: Ratbi 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/. 5 c.821C>T r.(?) p.(Pro274Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065424 DNA SEQ;SEQ-NG - - PEX6 2 Jamie Zeegers