Variant #0000549131 (NC_000012.11:g.7343876C>T, PEX5(NM_000319.4):c.238C>T)

Chromosome 12
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.7343876C>T
DNA change (hg38) g.7191280C>T
Published as PEX5(NM_001131025.1):c.238C>T (p.Q80*)
ISCN -
DB-ID PEX5_000042
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX5 NM_000319.4 +/. - c.238C>T r.(?) p.(Gln80Ter)