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Table 3 Mutations in CAVIN1 gene [5,6,7,8,9,10,11,12,13,14]

From: Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant

PatientsMutations
Patient 1c.631G > T:p.E211X(homozygous)
Patient 2c.362dupT(homozygous)
Patient 3c.696-697insC(homozygous)
Patient 4c.696-697insC(homozygous)
Patient 5c.696-697insC(homozygous)
Patient 6c.696-697insC(homozygous)
Patient 7c.696-697insC/c.525delG
Patient 8c.135delG
Patient 9c.135delG
Patient 10c.481-482insGTGA
Patient 11c.518-521delAAGA
Patient 12c.518-521delAAGA
Patient 13c.259C > T
Patient 14c.512CNA /c.696_697insC
Patient 15c.696_697insC
Patient 16c.160delG (homozygous)
Patient 17c.160delG (homozygous)
Patient 18c.160delG (homozygous)
Patient 19c.160delG (homozygous)
Patient 20c.160delG (homozygous)
Patient 21c.160delG (homozygous) с.45G > A (homozygous)
Patient 22c.160delG (homozygous)
Patient 23c.160delG (homozygous)
Patient 24c.160delG (homozygous)
Patient 25c.160delG (homozygous)
Patient 26c.550G > T
Patient 27c.550G > T
Patient 28c.518521delAAGA and c.471 + 1G.T