Variant #0000572172 (NC_000022.10:g.41911428T>C, ACO2(NM_001098.2):c.573T>C)

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41911428T>C
DNA change (hg38) g.41515424T>C
Published as ACO2(NM_001098.2):c.573T>C (p.T191=)
ISCN -
DB-ID ACO2_000037 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00023 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 -/. 5 c.573T>C r.(?) p.(Thr191=)
POLR3H NM_138338.3 -/. - c.*13859A>G r.(=) p.(=)