Variant #0000249797 (NC_000006.11:g.143780270A>G, PEX3(NM_003630.2):c.122A>G)

Chromosome 6
Allele Unknown
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.143780270A>G
DNA change (hg38) g.143459133A>G
Published as PEX3(NM_003630.2):c.122A>G (p.Q41R)
ISCN -
DB-ID PEX3_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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     
PEX3 NM_003630.2 ?/. - c.122A>G r.(?) p.(Gln41Arg)