Variant #0000638076 (NC_000016.9:g.2095496_2102578delinsN[273], NC_000016.9(NM_000548.3):c.-2600_226-765delinsN[273] (TSC2))
| Individual ID |
00281399 |
| 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.2095496_2102578delinsN[273] |
| DNA change (hg38) |
g.2045495_2052577delinsN[273] |
| Published as |
c.-2600_226-765del6561ins273 |
| ISCN |
- |
| DB-ID |
TSC2_003588 See all 2 reported entries |
| Variant remarks |
del 7083bp and ins 273bp (NG_005895.1:g.1190_8272delins273); starts upstream of untranslated ex 1, includes promoter region (Kobayashi et al, 1997; Mamm Genome. 1997, 8:554-8), ending in intron 3; inserted seq available on request |
| Reference |
unpublished |
| 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 |
2018-02-07 20:26:28 +01:00 (CET) |
| Date last edited |
2021-12-15 22:00:19 +01:00 (CET) |

Variant on transcripts
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