Variant #0000694526 (NC_000009.11:g.135781078_135781081del, NM_000368.4:c.1888_1891del (TSC1))
Individual ID |
00311706 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.135781078_135781081del |
DNA change (hg38) |
g.132905691_132905694del |
Published as |
c.1888_1891delAAAG |
ISCN |
- |
DB-ID |
TSC1_000116 See all 60 reported entries |
Variant remarks |
variant at 71% MAF; somatic variants in other genes found (not specified) |
Reference |
PubMed: Giannikou, 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Rosemary Ekong |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Rosemary Ekong |
Date created |
2020-09-28 10:24:41 +02:00 (CEST) |
Date last edited |
2020-10-20 13:25:19 +02:00 (CEST) |

Variant on transcripts
Screenings
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