Variant #0000638238 (NC_000016.9:g.(?_2097990)del, NM_000548.3:c.(?_-106)del (TSC2))
Individual ID |
00281561 |
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)del |
DNA change (hg38) |
g.(?_2047989)del |
Published as |
deletion 5'UTR |
ISCN |
- |
DB-ID |
TSC2_003645 See all 2 reported entries |
Variant remarks |
deletion of region 5' of TSC2 gene; breakpoints undetermined; TSC2 MLPA kits P046-C1-1011 and P337-A2-0510 used |
Reference |
Journal: 10.4236/ajmb.2014.43018 |
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 |
2021-04-23 13:58:39 +02:00 (CEST) |

Variant on transcripts
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