Variant #0000856187 (NC_000022.10:g.41903841C>G, ACO2(NM_001098.2):c.220C>G)

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903841C>G
DNA change (hg38) -
Published as ACO2(NM_001098.2):c.220C>G (p.L74V), ACO2(NM_001098.3):c.220C>G (p.L74V)
ISCN -
DB-ID ACO2_000005 See all 22 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00369 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 ?/. - c.220C>G r.(?) p.(Leu74Val)
POLR3H NM_138338.3 ?/. - c.*21446G>C r.(=) p.(=)