Variant #0000638520 (NC_000016.9:g.2129583C>T, NM_000548.3:c.3310C>T (TSC2))
Individual ID |
00281245 |
Chromosome |
16 |
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.2129583C>T |
DNA change (hg38) |
g.2079582C>T |
Published as |
p.Q1104* |
ISCN |
- |
DB-ID |
TSC2_002236 See all 5 reported entries |
Variant remarks |
found with TSC2 splice variant c.976-15G>A; MAF =0.35; no normal sample available for comparison |
Reference |
PubMed: Giannikou, 2016 |
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 |
2016-10-26 16:03:19 +02:00 (CEST) |
Date last edited |
2021-01-18 10:19:05 +01:00 (CET) |

Variant on transcripts
Screenings
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