NC_012920.1:m.827A>G

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  2. NC_012920.1:m.827A>G

HGVS Expressions

  • NC_012920.1:m.827A>G

Associated Genes

Ribosomal RNA, Mitochondrial, 12S
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Clinvar Clinical Significance

Drug Response

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28358569

Clinvar

9634

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
500008.2United Arab EmiratesHomoplasmicLikely PathogenicDeafness, Nonsyndromic Sensorineural, MitochondrialMohamed et al. 2020 3 other affected siblings
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Contributors

  • Pratibha Nair: 18.07.2022

Edit History

  • Pratibha Nair: 18.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.