Variant #0000254902 (NC_000023.10:g.117892072A>G, IL13RA1(NM_001560.2):c.543A>G)

Chromosome X
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.117892072A>G
DNA change (hg38) g.118758109A>G
Published as IL13RA1(NM_001560.2):c.543A>G (p.Q181=)
ISCN -
DB-ID IL13RA1_000006
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) 0.00017 View details
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     
IL13RA1 NM_001560.2 -?/. - c.543A>G r.(?) p.(Gln181=)