Variant #0000001309 (NC_000023.10:g.28807769T>C, IL1RAPL1(NM_014271.3):c.82+227T>C)

Individual ID 00000019
Chromosome X
Allele Both (homozygous)
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.28807769T>C
DNA change (hg38) g.28789652T>C
Published as -
ISCN -
DB-ID IL1RAPL1_000011
Variant remarks -
Reference PubMed: Almomani 2011
ClinVar ID -
dbSNP ID rs12690144
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL1RAPL1 NM_014271.3 -?/. 2i c.82+227T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000019 DNA SEQ-NG - - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 Global Variome, with Curator vacancy