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.1347G>A
reference AA: M
variant AA: I
reference codon: atG
variant codon: atA
cDNA pos: 1453
CDS pos: 1347
translation impact: non_synonymous
protein sequence:
NP_000539.2
AA pos: 449
hgvs_p: NP_000539.2:p.Met449Ile
blosum: 1
SIFT: tolerated (0.05)
PolyPhen2: benign (0.444)
NM_001077183.1
[CDS]
hgvs_c: NM_001077183.1:c.1347G>A
reference AA: M
variant AA: I
reference codon: atG
variant codon: atA
cDNA pos: 1453
CDS pos: 1347
translation impact: non_synonymous
protein sequence:
NP_001070651.1
AA pos: 449
hgvs_p: NP_001070651.1:p.Met449Ile
blosum: 1
SIFT: tolerated (0.14)
PolyPhen2: benign (0.413)
NM_001114382.1
[CDS]
hgvs_c: NM_001114382.1:c.1347G>A
reference AA: M
variant AA: I
reference codon: atG
variant codon: atA
cDNA pos: 1453
CDS pos: 1347
translation impact: non_synonymous
protein sequence:
NP_001107854.1
AA pos: 449
hgvs_p: NP_001107854.1:p.Met449Ile
blosum: 1
SIFT: tolerated (0.14)
PolyPhen2: benign (0.413)
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