Variant #0000572167 (NC_000022.10:g.41903801C>G, ACO2(NM_001098.2):c.180C>G)

Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903801C>G
DNA change (hg38) g.41507797C>G
Published as ACO2(NM_001098.3):c.180C>G (p.N60K)
ISCN -
DB-ID ACO2_000034 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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 -?/. 3 c.180C>G r.(?) p.(Asn60Lys)
POLR3H NM_138338.3 -?/. - c.*21486G>C r.(=) p.(=)