Variant #0000638309 (NC_000016.9:g.2137925_2137942del, NM_000548.3:c.5051_5068del (TSC2))
Individual ID |
00281632 |
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.2137925_2137942del |
DNA change (hg38) |
g.2087924_2087941del |
Published as |
p.1684_1690del |
ISCN |
- |
DB-ID |
TSC2_003679 See all 6 reported entries |
Variant remarks |
18bp deletion of CCCTGCAGTGCAGGAAAG; predicted splice variant; an incidental finding in NGS panel of 76 cancer predisposition genes after standard clinical testing, based on clinical symptoms, had identified MLH1 c.1321G>A (p.Ala441Thr) |
Reference |
PubMed: Cheng, 2017 |
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 |
2018-05-24 23:01:25 +02:00 (CEST) |
Date last edited |
2021-07-21 18:05:32 +02:00 (CEST) |

Variant on transcripts
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