Variant #0000053092 (NC_000023.10:g.(29194665_29225499)_(29935793_29936393)del, IL1RAPL1(NM_014271.3):c.(83-106390_83-75556)_(911+80_911+680)del)

Individual ID 00029659
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(29194665_29225499)_(29935793_29936393)del
DNA change (hg38) -
Published as hg18 g.(29104586_29135420)_(29838753_29856482)del
ISCN -
DB-ID IL1RAPL1_000019
Variant remarks 730 kb deletion
Reference PubMed: Piton 2008, Journal: Piton 2008
ClinVar ID -
dbSNP ID -
Origin Germline
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 +/. 2i_7i c.(83-106390_83-75556)_(911+80_911+680)del r.83_911del p.Ala28Glufs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029702 DNA arrayCGH - - IL1RAPL1 1 Johan den Dunnen