NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) AND Tuberous sclerosis syndrome
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000042757.3
Allele description [Variation Report for NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)]
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)
Condition(s)
-
Phosphoinositide-dependent kinase 1, isoform F [Drosophila melanogaster]
Phosphoinositide-dependent kinase 1, isoform F [Drosophila melanogaster]gi|24654496|ref|NP_728472.1|Protein
-
Homo sapiens haplotype 29 gamma-aminobutyric acid A receptor beta 2 (GABRB2) gen...
Homo sapiens haplotype 29 gamma-aminobutyric acid A receptor beta 2 (GABRB2) gene, exon 9 and partial cdsgi|264668559|gb|GU117801.1|Nucleotide
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Last Updated: Jun 2, 2024