Variant #0000164217 (NC_000006.11:g.42946068G>A, PEX6(NM_000287.3):c.821C>T)

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
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 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.05)
Reference PubMed: Ratbi 2015, Journal: Ratbi 2015
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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