Variant #0000089087 (NC_000023.10:g.(?_100641212)_100608911del, NM_000061.2:c.(?_-57)_1696del (BTK))
Individual ID |
00058543 |
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.(?_100641212)_100608911del |
DNA change (hg38) |
- |
Published as |
5'UTR-C1828 |
ISCN |
- |
DB-ID |
BTK_000897 |
Variant remarks |
The 5'-terminal half of the cDNA was not amplified, suggesting a large deletion |
Reference |
PubMed: Hashimoto et al 1996, IDbase_AccNr: A0324 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
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 |
1996-08-19 00:00:00 +02:00 (CEST) |
Date last edited |
2021-05-24 11:03:23 +02:00 (CEST) |

Variant on transcripts
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