NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs) 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:
- RCV000042714.3
Allele description [Variation Report for NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs)]
NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs)
Condition(s)
-
G-protein coupled receptor family C group 5 member C isoform X2 [Homo sapiens]
G-protein coupled receptor family C group 5 member C isoform X2 [Homo sapiens]gi|2217312821|ref|XP_047292355.1|Protein
-
ATP-sensitive inward rectifier potassium channel 11 isoform 2 [Homo sapiens]
ATP-sensitive inward rectifier potassium channel 11 isoform 2 [Homo sapiens]gi|261399884|ref|NP_001159762.1|Protein
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Last Updated: Jun 2, 2024