Variant #0000465638 (NC_000022.10:g.41903957C>G, ACO2(NM_001098.2):c.336C>G)

Individual ID 00226259
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 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Options




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     
0000227399 DNA SEQ-NG-S - - ACO2 1 Thomas Foulonneau