Variant #0000725516 (NC_000016.9:g.2093737_2093738del, NM_000548.3:c.-4359_-4358del (TSC2))
| Chromosome |
16 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2093737_2093738del |
| DNA change (hg38) |
- |
| Published as |
NTHL1(NM_002528.7):c.526-11_526-10delCT |
| ISCN |
- |
| DB-ID |
NTHL1_000232 See all 2 reported entries |
| Variant remarks |
VKGL data sharing initiative Nederland |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
CLASSIFICATION record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00017 View details |
| Owner |
VKGL-NL_Rotterdam |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Rotterdam |
| Date created |
2021-02-08 18:36:18 +01:00 (CET) |
| Date last edited |
N/A |

Variant on transcripts
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