Variant #0000637732 (NC_000016.9:g.2097269_2098012del, NM_000548.3:c.-827_-84del (TSC2))
| Individual ID |
00281055 |
| 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.2097269_2098012del |
| DNA change (hg38) |
g.2047268_2048011del |
| Published as |
c.-106-722_-85del; 744nt del includes part exon 1; sent seq in this nomenclature = c.-106-723_-86del |
| ISCN |
- |
| DB-ID |
TSC2_003410 See all 2 reported entries |
| Variant remarks |
744nt del involving 23nt at 5' end of untranslated exon 1 and upstream sequence; HGVS compliant description = NG_005895.1:g.2963_3706del (considers most 3' nts as affected); variant at 50% freq; NGS read depth >500x |
| Reference |
PubMed: Tyburczy, 2015 |
| 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 |
2016-03-04 16:09:15 +01:00 (CET) |
| Date last edited |
2021-04-23 13:58:39 +02:00 (CEST) |

Variant on transcripts
Screenings
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