NM_080425.4:c.2405T>C

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HGVS Expressions

  • NG_016194.2:g.70687T>C
  • NM_080425.4:c.2405T>C
  • NP_536350.2:p.Val802Ala
  • NC_000020.11:g.58905426T>C

Associated Genes

GNAS Complex Locus
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
103580.1Saudi Arabia1NAPathogenicPseudohypoparathyroidism, Type IAMaddirevula et al. 2018 Mutation is de novo and patient's parent...
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Contributors

  • Asha Deepthi: 30.11.2021

Edit History

  • Rahila Mir: 08.02.2022
  • Asha Deepthi: 30.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.