Variant #0000733885 (NC_000022.10:g.41903866T>C, ACO2(NM_001098.2):c.245T>C)

Individual ID 00334280
Chromosome 22
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903866T>C
DNA change (hg38) g.41507862T>C
Published as -
ISCN -
DB-ID ACO2_000130
Variant remarks -
Reference PubMed: Stone 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 +?/. - c.245T>C r.(?) p.(Ile82Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335506 DNA SEQ-NG - - ACO2 2 LOVD