Variant #0000084445 (NC_000023.10:g.100611047C>T, NM_000061.2:c.1559G>A (BTK))
Individual ID |
00054557 |
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.100611047C>T |
DNA change (hg38) |
g.101356059C>T |
Published as |
- |
ISCN |
- |
DB-ID |
BTK_000228 See all 24 reported entries |
Variant remarks |
- |
Reference |
IDbase_AccNr: A0436 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
PflMI+ |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Dr. Tracy Lester |
Database submission license |
No license selected |
Created by |
Dr. Tracy Lester |
Date created |
1997-09-07 00:00:00 +02:00 (CEST) |
Date last edited |
2021-05-13 11:19:39 +02:00 (CEST) |

Variant on transcripts
Screenings
|