Variant #0000879261 (NC_000021.8:g.46330651del, NM_000211.3:c.49del (ITGB2))
| Individual ID |
00417991 |
| Chromosome |
21 |
| Allele |
Both (homozygous) |
| 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.46330651del |
| DNA change (hg38) |
g.44910736del |
| Published as |
c.49delC |
| ISCN |
- |
| DB-ID |
ITGB2_000235 |
| Variant remarks |
- |
| Reference |
Fischer unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Dirk Roos |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-09-27 16:04:35 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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