Variant #0000403843 (NC_000023.10:g.100443248_100639269del, NC_000023.10(NM_000061.2):c.-31+1781_*161625del (BTK))
Individual ID |
00179461 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.100443248_100639269del |
DNA change (hg38) |
g.101188262_101384283del |
Published as |
- |
ISCN |
- |
DB-ID |
BTK_000931 |
Variant remarks |
196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?) |
Reference |
PubMed: Arai 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2018-08-22 21:00:37 +02:00 (CEST) |
Date last edited |
2020-07-26 16:56:27 +02:00 (CEST) |

Variant on transcripts
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