Variant #0000528879 (NC_000006.11:g.42942633del, PEX6(NM_000287.3):c.1027del)

Chromosome 6
Allele Unknown
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.42942633del
DNA change (hg38) g.42974895del
Published as PEX6(NM_000287.4):c.1027delC (p.R343Gfs*8)
ISCN -
DB-ID PEX6_000148
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 +/. - c.1027del r.(?) p.(Arg343GlyfsTer8)
GNMT NM_018960.4 +/. - c.*11189del r.(?) p.(=)