Variant #0000053114 (NC_000023.10:g.(28807542_28807541)_(29686622_29935580)del, IL1RAPL1(NM_014271.3):c.(81+1_82-1)_(778+1_779-1)del)
Individual ID |
00029677 |
Chromosome |
X |
Allele |
Maternal (inferred) |
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.(28807542_28807541)_(29686622_29935580)del |
DNA change (hg38) |
- |
Published as |
del ex2-5 |
ISCN |
- |
DB-ID |
IL1RAPL1_000027 |
Variant remarks |
mapped by linkage |
Reference |
PubMed: Nawara 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
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 |
Date created |
2015-01-26 22:33:21 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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