NC_000012.12:g.[57764205A>G;57768302G>T] NC_000020.11:g.[54164712=;54125940=]

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  2. NC_000012.12:g.[57764205A>G;57768302G>T] NC_000020.11:g.[54164712=;54125940=]

HGVS Expressions

  • NC_000012.12:g.[57764205A>G;57768302G>T] NC_000020.11:g.[54164712=;54125940=]

Associated Genes

Cytochrome P450, Family 24, Subfamily A, Polypeptide 1; Cytochrome P450, Subfamily XXVIIB, Polypeptide 1
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CTGA Clinical Significance

Risk factor

Variant Type

Haplotype

dbSNP

2762939 6013897 10877012 4646536

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264700.G.1.3United Arab Emirates170.13Risk factorVitamin D Hydroxylation-Deficient Rickets, Type 1AAl Anouti et al. 2017 Cohort involving 162 total healthy Emira...
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Contributors

  • Sami Bizzari: 13.07.2022

Edit History

  • Sami Bizzari: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.