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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict-BioInf     
TSC2 NM_000548.3 -?/. 22 c.2476C>A - p.Leu826Met Hamartin binding domain -


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