Variant #0000004457 (NC_000009.11:g.135782743delA, TSC1(NM_000368.4):c.1278delT)
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Gene |
TSC1 |
Transcript ID |
NM_000368.4 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Exon |
13 |
DNA change (cDNA) |
c.1278delT |
RNA change |
r.(?) |
Protein |
p.(Ser427Leufs*13) |
Variant/VariO/DNA |
VariO:0141 DNA deletion |
Variant/VariO/protein |
VariO:0023 amphigoric amino acid indel |
Variant on transcripts
Screenings
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