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
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