Variant #0000535344 (NC_000008.10:g.77896129G>A, PEX2(NM_000318.2):c.286C>T)

Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.77896129G>A
DNA change (hg38) g.76983893G>A
Published as PEX2(NM_000318.2):c.286C>T (p.(Gln96Ter)), PEX2(NM_001172086.1):c.286C>T (p.Q96*)
ISCN -
DB-ID PEX2_000035
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX2 NM_000318.2 +?/. - c.286C>T r.(?) p.(Gln96Ter)