Gene Symbol: SDHB
OMIM: 185470Chromosome location: 1p36.13
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Pheochromocytoma |
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| Dna Change: | c.166_170delCCTCA |
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| Protein Change: | p.Pro56TyrfsX5 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 2 |
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| Transcript: | NM_003000.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | NA | NA | NA | Cascón A et al., 2009Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M, . Genetics of pheochromocytoma and paraganglioma in Spanish patients.. J. Clin. Endocrinol. Metab.. 2009; 94(5):1701-5 |
References
Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M, Genetics of pheochromocytoma and paraganglioma in Spanish patients.J. Clin. Endocrinol. Metab.. 2009; 94(5):1701-5