Variant #0000694656 (NC_000016.9:g.2137565_2139331del, NM_000548.3:c.4990-299_*102{0} (TSC2))
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2137565_2139331del |
DNA change (hg38) |
g.2087564_2089330del |
Published as |
- |
ISCN |
- |
DB-ID |
TSC2_001694 See all 2 reported entries |
Variant remarks |
1767bp deletion; exons 39-42 deleted + 619bp downstream of TSC2, which includes part of PKD1 gene; deletion starts in TSC2 intron 38 |
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 |
2020-09-28 10:33:01 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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