Variant #0000038094 (NC_000023.10:g.29973451G>T, IL1RAPL1(NM_014271.3):c.1605G>T)

Individual ID 00017895
Chromosome X
Allele Maternal (inferred)
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.29973451G>T
DNA change (hg38) g.29955334G>T
Published as T535T
ISCN -
DB-ID IL1RAPL1_000001 See all 2 reported entries
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00091 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 -?/. 11 c.1605G>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017877 DNA SEQ - - IL1RAPL1 1 Lucy Raymond