Variant #0000633921 (NC_000016.9:g.(?_2097990)_(2114429_2115519)del, NC_000016.9(NM_000548.3):c.(?_-106)_(1599+1_1600-1)del (TSC2))
Individual ID |
00277599 |
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.(?_2097990)_(2114429_2115519)del |
DNA change (hg38) |
g.(?_2047989)_(2064428_2065518)del |
Published as |
TSC2del 5'3-e14 |
ISCN |
- |
DB-ID |
TSC2_003475 See all 4 reported entries |
Variant remarks |
ex 1-15 del; del extends >15kb 5' of TSC2, involves SLC9A3R2 and NTHL1 genes, ends in intron 15 |
Reference |
PubMed: Au, 2007, PubMed: Kozlowski, 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
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 |
2007-01-28 16:40:00 +01:00 (CET) |
Date last edited |
2021-04-23 13:58:39 +02:00 (CEST) |

Variant on transcripts
Screenings
|