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 International |
Created by |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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