Variant #0000465590 (NC_000022.10:g.41903957C>G, ACO2(NM_001098.2):c.336C>G)

Individual ID 00226263
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903957C>G
DNA change (hg38) g.41507953C>G
Published as -
ISCN -
DB-ID ACO2_000001 See all 11 reported entries
Variant remarks Not in 256 control chromosomes
Reference PubMed: Spiegel 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-03-07 14:41:18 +01:00 (CET)
Date last edited 2020-06-22 19:20:35 +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 +?/. 3 c.336C>G r.(?) p.(Ser112Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227377 DNA SEQ-NG-S - - ACO2 1 Thomas Foulonneau