Variant #0000130325 (NC_000023.10:g.(?_100608182)_(100608976_?)del, NM_000061.2:c.(1632-?)_(1908+?)del (BTK))
Individual ID |
00081124 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
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.(?_100608182)_(100608976_?)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
BTK_000828 |
Variant remarks |
large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier |
Reference |
PubMed: Haire, R. N (1997); IDbase_AccNr: A0287 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Dr. Gary W. Litman |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Gerard C.P. Schaafsma |
Date created |
2016-09-13 16:22:29 +02:00 (CEST) |
Date last edited |
2021-05-24 11:04:09 +02:00 (CEST) |

Variant on transcripts
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