Variant #0000335295 (NC_000023.10:g.117907850C>T, IL13RA1(NM_001560.2):c.1018C>T)

Chromosome X
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.117907850C>T
DNA change (hg38) g.118773887C>T
Published as IL13RA1(NM_001560.2):c.1018C>T (p.R340C, p.(Arg340Cys))
ISCN -
DB-ID IL13RA1_000007 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) 0.00091 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL13RA1 NM_001560.2 ?/. - c.1018C>T r.(?) p.(Arg340Cys)