Variant #0000646834 (NC_000022.10:g.41907888C>G, ACO2(NM_001098.2):c.441C>G)

Individual ID 00289017
Chromosome 22
Allele Maternal (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.41907888C>G
DNA change (hg38) g.41511884C>G
Published as -
ISCN -
DB-ID ACO2_000052 See all 4 reported entries
Variant remarks -
Reference Journal: Charif 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Khadidja Guehlouz
Database submission license No license selected
Created by Khadidja Guehlouz
Date created 2020-02-25 10:21:13 +01:00 (CET)
Date last edited 2021-05-06 16:00:12 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 +/. 4 c.441C>G r.(?) p.(Asn147Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290186 DNA SEQ-NG blood - ACO2 1 Khadidja Guehlouz