Variant #0000083677 (NC_000023.10:g.100641249T>G, NM_000061.2:c.-230A>C (BTK))
| Individual ID |
00053789 |
| Chromosome |
X |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.100641249T>G |
| DNA change (hg38) |
g.101386261T>G |
| Published as |
-67a->c(promoter) |
| ISCN |
- |
| DB-ID |
BTK_000309 |
| Variant remarks |
mother is carrier |
| Reference |
PubMed: Futatani, T 2001, IDbase_AccNr: A0758 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Gerard C.P. Schaafsma |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Gerard C.P. Schaafsma |
| Date created |
2001-09-03 00:00:00 +02:00 (CEST) |
| Date last edited |
2021-07-01 08:54:06 +02:00 (CEST) |

Variant on transcripts
Screenings
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