Variant #0000130325 (NC_000023.10:g.(?_100608182)_(100608976_?)del, NM_000061.2:c.(1632-?)_(1908+?)del (BTK))
| Individual ID |
00081124 |
| 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.(?_100608182)_(100608976_?)del |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
BTK_000828 |
| Variant remarks |
large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier |
| Reference |
PubMed: Haire, R. N (1997); IDbase_AccNr: A0287 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Dr. Gary W. Litman |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Gerard C.P. Schaafsma |
| Date created |
2016-09-13 16:22:29 +02:00 (CEST) |
| Date last edited |
2021-05-24 11:04:09 +02:00 (CEST) |

Variant on transcripts
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