Variant #0000403843 (NC_000023.10:g.100443248_100639269del, NC_000023.10(NM_000061.2):c.-31+1781_*161625del (BTK))
| Individual ID |
00179461 |
| Chromosome |
X |
| Allele |
Unknown |
| 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.100443248_100639269del |
| DNA change (hg38) |
g.101188262_101384283del |
| Published as |
- |
| ISCN |
- |
| DB-ID |
BTK_000931 |
| Variant remarks |
196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?) |
| Reference |
PubMed: Arai 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| 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 |
2018-08-22 21:00:37 +02:00 (CEST) |
| Date last edited |
2020-07-26 16:56:27 +02:00 (CEST) |

Variant on transcripts
Screenings
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