Variant #0000638335 (NC_000016.9:g.(?_2097990)_(2114429_2115519)del, NC_000016.9(NM_000548.3):c.(?_-106)_(1599+1_1600-1)del (TSC2))
| Individual ID |
00281658 |
| 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 |
TSC2 del ex1-15 |
| ISCN |
- |
| DB-ID |
TSC2_003475 See all 4 reported entries |
| Variant remarks |
MLPA kits TSC2 P046 and P337 used (42 exons) |
| Reference |
PubMed: Suspitsin, 2018 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| 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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