Variant #0000782079 (NC_000016.9:g.(?_2097990)_(2100488_2103342)del, TSC2(NM_000548.3):c.(?_-106)_(225+1_226-1)del)
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_2097990)_(2100488_2103342)del |
DNA change (hg38) |
g.(?_2047989)_(2050487_2053341)del |
Published as |
- |
ISCN |
- |
DB-ID |
TSC2_003018 See all 2 reported entries |
Variant remarks |
exons 1-3 deleted, including region upstream of TSC2 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
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 |
2021-05-04 16:22:13 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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