Please note that we are in the process of moving the TSC Variation databases from the current LOVD2 platform to LOVD3. While the classification of variants in LOVD2 are updated as necessary, other information such as the exon numbering are not being updated in LOVD2. Please continue to use LOVD2 to check for variants until we have completed data transfer to LOVD3.
LOVD - Variant listings for TSC2

About this overview [Show]

Patient data (#0002195)
Disease TSC
Reference Yamamoto, 2002
Gender -
Geographic origin Japan
Ethnic origin -
Remarks -
Phenotype additional -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 10
DNA change c.993C>T   (View in UCSC Genome Browser, Ensembl)
Functional Assay seen in 5/48 alleles
DNA_reported 993C>T (N331N)
RNA change r.(?)
Protein p.(=)
DB-ID TSC2_00187
Origin -
DNA remark -
PolyPhen -
Re-site -
Frequency -
Template DNA
Technique SEQ
Tissue -
# Var_reported 1

1 entry in TSC2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Functional Assay Descending
Ascending
DNA_reported Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Origin Descending
Ascending
DNA remark Descending
Ascending
PolyPhen Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Tissue Descending
Ascending
# Var_reported Descending
Ascending
?/? Unknown 10 c.993C>T seen in 5/48 alleles 993C>T (N331N) r.(?) p.(=) TSC2_00187 - - - - - DNA SEQ - 1