Variant #0000083072 (NC_000023.10:g.100617204del, NM_000061.2:c.546del (BTK))
Individual ID |
00053184 |
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.100617204del |
DNA change (hg38) |
g.101362216del |
Published as |
- |
ISCN |
- |
DB-ID |
BTK_000034 |
Variant remarks |
- |
Reference |
PubMed: Noordzij, J. G 2002, PubMed: Noordzij, J. G 2002, IDbase_AccNr: A0422 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Patrizia Melia |
Database submission license |
No license selected |
Created by |
Patrizia Melia |
Date created |
1997-09-05 00:00:00 +02:00 (CEST) |
Date last edited |
2021-05-06 09:46:33 +02:00 (CEST) |

Variant on transcripts
Screenings
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