Variant #0000570529 (NC_000021.8:g.34635104C>A, IFNAR2(NM_000874.3):c.*83C>A)

Chromosome 21
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.34635104C>A
DNA change (hg38) g.33262799C>A
Published as IFNAR2(NM_001289128.1):c.716C>A (p.S239*)
ISCN -
DB-ID IFNAR2_000003
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL10RB NM_000628.4 ?/. - c.-3667C>A r.(?) p.(=)
IFNAR2 NM_000874.3 ?/. - c.*83C>A r.(=) p.(=)