Variant #0000083316 (NC_000023.10:g.100630230G>A, BTK(NM_000061.2):c.43C>T)
Individual ID |
00053428 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.100630230G>A |
DNA change (hg38) |
g.101375242G>A |
Published as |
- |
ISCN |
- |
DB-ID |
BTK_000335 See all 5 reported entries |
Variant remarks |
mother is carrier |
Reference |
PubMed: Hagemann, T. L 1995, IDbase_AccNr: A0163 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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