Variant #0000642708 (NC_000022.10:g.41903817_41903818del, ACO2(NM_001098.2):c.196_197del)

Individual ID 00281823
Chromosome 22
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903817_41903818del
DNA change (hg38) g.41507813_41507814del
Published as -
ISCN -
DB-ID ACO2_000057 See all 5 reported entries
Variant remarks -
Reference Journal: Charif 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Khadidja Guehlouz
Database submission license No license selected
Created by Khadidja Guehlouz
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 +/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286975 DNA SEQ-NG - - ACO2 1 Khadidja Guehlouz