NM_000315.3:c.128G>A

  1. Home
  2. NM_000315.3:c.128G>A

HGVS Expressions

  • NG_008962.1:g.8396G>A
  • NM_000315.3:c.128G>A
  • NP_000306.1:p.Gly43Glu
  • NC_000011.10:g.13492625C>T

Associated Genes

Parathyroid Hormone
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
146200.1United Arab Emirates2Likely PathogenicHypoparathyroidism, Familial Isolated, 1Saleh et al. 2021 Similarly affected brother
Download Table

Contributors

  • Pratibha Nair: 12.01.2022

Edit History

  • Rahila Mir: 08.02.2022
  • Pratibha Nair: 12.01.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.