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

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Patient data (#0003702)
Disease TSC
Reference Sancak, 2005
Gender ?
Geographic origin -
Ethnic origin -
Remarks patient has TSC2 intronic variant c.2546-31G>A and TSC2 missense c.1831C>T
Phenotype additional -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 22
DNA change c.2546-31G>A   (View in UCSC Genome Browser, Ensembl)
Functional Assay -
DNA_reported intron 21
RNA change r.(=)
Protein p.(=)
DB-ID TSC2_02361
Origin ? (unknown)
DNA remark found with TSC2 missense c.1831C>T; other restriction sites are +MlyI, +PleI, -BsaJI, -BssKI, -CviKI_1, -HpaII, -NciI, -ScrFI, -StyD4I
PolyPhen -
Re-site +HinfI, -MspI
Frequency -
Template DNA
Technique SEQ
Tissue Blood
# Var_reported 1

2 entries 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 16 c.1831C>T - - r.? p.(Arg611Trp) TSC2_00053 ? (unknown) found with TSC2 intronic variant c.2546-31G>A; other restriction sites deleted are BtsCI, FokI, HpaII, BslI probably damaging +AlwNI, -MspI - DNA SEQ Blood 1
-/- Unknown 22 c.2546-31G>A - intron 21 r.(=) p.(=) TSC2_02361 ? (unknown) found with TSC2 missense c.1831C>T; other restriction sites are +MlyI, +PleI, -BsaJI, -BssKI, -CviKI_1, -HpaII, -NciI, -ScrFI, -StyD4I - +HinfI, -MspI - DNA SEQ Blood 1