Variant #0000785578 (NC_000008.10:g.77895895_77895898del, PEX2(NM_000318.2):c.521_524del)

Individual ID 00373510
Chromosome 8
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.77895895_77895898del
DNA change (hg38) g.76983659_76983662del
Published as -
ISCN -
DB-ID PEX2_000044
Variant remarks variant found in controls
Reference PubMed: Liu 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX2 NM_000318.2 ?/. - c.521_524del r.(?) p.(His174LeufsTer17)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374745 DNA SEQ-NG - 316-gene panel ABCA4 4 LOVD