Variant #0000053084 (NC_000023.10:g.29301063T>C, IL1RAPL1(NM_014271.3):c.91T>C)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.29301063T>C
DNA change (hg38) g.29282946T>C
Published as -
ISCN -
DB-ID IL1RAPL1_000003 See all 2 reported entries
Variant remarks expression cloning shows failure to induce pre- and post-synaptic differentiation; HEK293 cells reduced interaction IL1RAPL1/PTPdelta; no effect on cellular signaling (still activating JNK pathway)
Reference PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL1RAPL1 NM_014271.3 +/. 3 c.91T>C r.(?) p.Cys31Arg