Variant #0000053086 (NC_000023.10:g.29959846A>G, IL1RAPL1(NM_014271.3):c.1136A>G)

Individual ID 00029654
Chromosome X
Allele Maternal (confirmed)
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.29959846A>G
DNA change (hg38) g.29941729A>G
Published as K379R
ISCN -
DB-ID IL1RAPL1_000016
Variant remarks not in 190 controls
Reference PubMed: Piton 2008, Journal: Piton 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/142 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00042 View details
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 -?/. 9 c.1136A>G r.(?) p.(Lys379Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029697 DNA SEQ - - IL1RAPL1 1 Johan den Dunnen