Variant #0000817839 (NC_000022.10:g.41903923C>T, ACO2(NM_001098.2):c.302C>T)

Individual ID 00387815
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903923C>T
DNA change (hg38) g.41507919C>T
Published as -
ISCN -
DB-ID ACO2_000138
Variant remarks -
Reference PubMed: Hu 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 +?/. - c.302C>T r.(?) p.(Ala101Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389046 DNA SEQ;SEQ-NG - - ACO2 1 Johan den Dunnen