Variant #0000053103 (NC_000023.10:g.(29686622_29935580)_(30327481_30671654)del, IL1RAPL1(NM_014271.3):c.(778+1_779-1)_(*1_?)del)

Individual ID 00029665
Chromosome X
Allele Unknown
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.(29686622_29935580)_(30327481_30671654)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID IL1RAPL1_000024
Variant remarks deletion extends from (6i_DXS7187)_(AHC_GK)
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL1RAPL1 NM_014271.3 +/. 6i_11_ c.(778+1_779-1)_(*1_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029708 DNA PCR - - IL1RAPL1, NR0B1 2 Johan den Dunnen