Variant #0000646847 (NC_000022.10:g.41903841C>G, ACO2(NM_001098.2):c.220C>G)

Individual ID 00289028
Chromosome 22
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903841C>G
DNA change (hg38) g.41507837C>G
Published as -
ISCN -
DB-ID ACO2_000005 See all 22 reported entries
Variant remarks -
Reference Journal: Charif 2021
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00369 View details
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.220C>G r.(?) p.(Leu74Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290197 DNA SEQ-NG blood - ACO2 1 Khadidja Guehlouz