Variant #0000053114 (NC_000023.10:g.(28807542_28807541)_(29686622_29935580)del, IL1RAPL1(NM_014271.3):c.(81+1_82-1)_(778+1_779-1)del)

Individual ID 00029677
Chromosome X
Allele Maternal (inferred)
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.(28807542_28807541)_(29686622_29935580)del
DNA change (hg38) -
Published as del ex2-5
ISCN -
DB-ID IL1RAPL1_000027
Variant remarks mapped by linkage
Reference PubMed: Nawara 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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
Date created 2015-01-26 22:33:21 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL1RAPL1 NM_014271.3 +/. 2i_6i c.(81+1_82-1)_(778+1_779-1)del r.del p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029719 DNA FISH;PCR - - IL1RAPL1 1 Johan den Dunnen