Variant #0000237905 (NC_000009.11:g.130428566_130428568delinsCC, NM_003165.3:c.785_787delinsCC (STXBP1))
Individual ID |
00144673 |
Chromosome |
9 |
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.130428566_130428568delinsCC |
DNA change (hg38) |
g.127666287_127666289delinsCC |
Published as |
- |
ISCN |
- |
DB-ID |
STXBP1_000060 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
IMGAG |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
IMGAG |
Date created |
2017-12-21 13:09:03 +01:00 (CET) |
Date last edited |
2017-12-22 10:50:36 +01:00 (CET) |

Variant on transcripts
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