Variant #0000083974 (NC_000023.10:g.100630261dup, NM_000061.2:c.12dup (BTK))
Individual ID |
00054086 |
Chromosome |
X |
Allele |
Unknown |
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.100630261dup |
DNA change (hg38) |
g.101375273dup |
Published as |
- |
ISCN |
- |
DB-ID |
BTK_000377 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Kanegane, H 2001, IDbase_AccNr: A1051 |
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 |
2004-06-29 00:00:00 +02:00 (CEST) |
Date last edited |
2021-07-01 08:54:06 +02:00 (CEST) |

Variant on transcripts
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