Variant #0000150189 (NC_000023.10:g.100630273_100630277del, NM_000061.2:c.-4_1del (BTK))
| Individual ID |
00091816 |
| Chromosome |
X |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.100630273_100630277del |
| DNA change (hg38) |
g.101375285_101375289del |
| Published as |
128_133delAAGCT |
| ISCN |
- |
| DB-ID |
BTK_000830 |
| Variant remarks |
- |
| Reference |
PubMed: Chen XF, 2016, IDbase_AccNr: A1803 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Qing Wang |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Qing Wang |
| Date created |
2016-12-15 22:34:29 +01:00 (CET) |
| Date last edited |
2021-04-23 10:49:34 +02:00 (CEST) |

Variant on transcripts
Screenings
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