Variant #0000693203 (NC_000022.10:g.41903986C>T, ACO2(NM_001098.2):c.365C>T)

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.41903986C>T
DNA change (hg38) -
Published as ACO2(NM_001098.2):c.365C>T (p.S122F)
ISCN -
DB-ID ACO2_000125
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 ?/. - c.365C>T r.(?) p.(Ser122Phe)
POLR3H NM_138338.3 ?/. - c.*21301G>A r.(=) p.(=)