NM_000102.4:c.287G>A

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HGVS Expressions

  • NG_007955.1:g.5459G>A
  • NM_000102.4:c.287G>A
  • NP_000093.1:p.Arg96Gln
  • NC_000010.11:g.102837075C>T

Associated Genes

Cytochrome P450, Family 17, Subfamily A, Polypeptide 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894153

Clinvar

1802

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
202110.1United Arab Emirates2PathogenicAdrenal Hyperplasia, Congenital, due to 17-Alpha-Hydroxylase DeficiencyDeeb et al. 2015 The patient had 3 younger sisters with a...
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Contributors

  • Sayeeda Hana: 21.06.2021

Edit History

  • Sayeeda Hana: 21.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.