Variant #0000455882 (NC_000016.9:g.2124321C>A, NM_000548.3:c.2476C>A (TSC2))
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2124321C>A |
DNA change (hg38) |
g.2074320C>A |
Published as |
- |
ISCN |
- |
DB-ID |
TSC2_000132 See all 17 reported entries |
Variant remarks |
no effect on tuberin-hamartin interaction; rheb GTPase activity increased and S6 phosphorylation inhibited as seen with wt tuberin; S6K T389 phosphorylation not significantly higher than wild type TSC2, but is significantly lower than pathogenic TSC variant; assayed in human & mouse in vitro systems/non-pathogenic |
Reference |
PubMed: Hoogeveen-Westerveld, 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
In vitro (cloned) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00066 View details |
Owner |
Rosemary Ekong |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Rosemary Ekong |
Date created |
2013-06-12 02:25:54 +02:00 (CEST) |
Date last edited |
2021-04-23 13:58:39 +02:00 (CEST) |

Variant on transcripts
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