Variant #0000900475 (NC_000023.10:g.100622527_100631519del, NC_000023.10(NM_000061.2):c.-30-1217_391+2459del (BTK))
| Individual ID |
00423125 |
| Chromosome |
X |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.100622527_100631519del |
| DNA change (hg38) |
g.101367539_101376531del |
| Published as |
- |
| ISCN |
- |
| DB-ID |
BTK_001064 |
| Variant remarks |
- |
| Reference |
PubMed: Zhou 2022 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline/De novo (untested) |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Mauno Vihinen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-11-11 11:14:58 +01:00 (CET) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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