Classification
Category 1
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: TSC2
synonym(s): LAM, TSC4, TSC2, ENSG00000103197
NM_000548.3
[CDS]
Reportable
hgvs_c: NM_000548.3:c.3797dupT
reference AA: L
variant AA: LX
reference codon: ctg
variant codon: cTtg
cDNA pos: 3902
CDS pos: 3796
translation impact: frameshift
protein sequence:
NP_000539.2
AA pos: 1266
hgvs_p: NP_000539.2:p.Pro1267AlafsTer55
blosum: 4
NM_001077183.1
[CDS]
hgvs_c: NM_001077183.1:c.3665dupT
reference AA: L
variant AA: LX
reference codon: ctg
variant codon: cTtg
cDNA pos: 3770
CDS pos: 3664
translation impact: frameshift
protein sequence:
NP_001070651.1
AA pos: 1222
hgvs_p: NP_001070651.1:p.Pro1223AlafsTer32
blosum: 4
NM_001114382.1
[CDS]
hgvs_c: NM_001114382.1:c.3797dupT
reference AA: L
variant AA: LX
reference codon: ctg
variant codon: cTtg
cDNA pos: 3902
CDS pos: 3796
translation impact: frameshift
protein sequence:
NP_001107854.1
AA pos: 1266
hgvs_p: NP_001107854.1:p.Pro1267AlafsTer32
blosum: 4
dbSNP
rs796053505
ClinVar
207775
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Tuberous sclerosis 2
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