Variant #0000900389 (NC_000023.10:g.100641049C>T, NC_000023.10(NM_000061.2):c.-31+1G>A (BTK))
Individual ID |
00423039 |
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.100641049C>T |
DNA change (hg38) |
g.101386061C>T |
Published as |
- |
ISCN |
- |
DB-ID |
BTK_000305 See all 4 reported entries |
Variant remarks |
- |
Reference |
PubMed: Rawat 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Mauno Vihinen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-11-11 11:14:58 +01:00 (CET) |
Date last edited |
2022-12-13 09:04:50 +01:00 (CET) |

Variant on transcripts
Screenings
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