OMIM: 256450Inheritance: Multiple
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ABCC8 |
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| Dna Change: | c.3512delT |
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| Protein Change: | p.Leu1171ArgfsX38 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 28 |
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| Transcript: | NM_001287174.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 5 patients/35 patients | NA | Demirbilek H et al., 2014Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K, . Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.. Eur. J. Endocrinol.. 2014; 0(0): |
| Gene/Locus: | ABCC8 |
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| Dna Change: | c.584_585insA |
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| Protein Change: | p.Tyr195X |
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| Mutation Type: | Insertion |
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| Mutation Effect: | Nonsense |
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| Location: | exon 5 |
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| Transcript: | NM_001287174.1 |
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References
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K, Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.Eur. J. Endocrinol.. 2014; 0(0):
Fernández-Marmiesse A, Salas A, Vega A, Fernández-Lorenzo JR, Barreiro J, Carracedo A, Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).Hum. Mutat.. 2006; 27(2):214