Variant #0000053092 (NC_000023.10:g.(29194665_29225499)_(29935793_29936393)del, IL1RAPL1(NM_014271.3):c.(83-106390_83-75556)_(911+80_911+680)del)
Individual ID |
00029659 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
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.(29194665_29225499)_(29935793_29936393)del |
DNA change (hg38) |
- |
Published as |
hg18 g.(29104586_29135420)_(29838753_29856482)del |
ISCN |
- |
DB-ID |
IL1RAPL1_000019 |
Variant remarks |
730 kb deletion |
Reference |
PubMed: Piton 2008, Journal: Piton 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
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 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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