NM_012448.4:c.1892G>A

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  2. NM_012448.4:c.1892G>A

HGVS Expressions

  • NM_012448.4:c.1892G>A
  • NP_036580.2:p.Trp631Ter
  • NC_000017.11:g.42210185C>T

Associated Genes

Signal Transducer and Activator of Transcription 5B
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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
245590.1.1United Arab Emirates2PathogenicGrowth Hormone Insensitivity with ImmunodeficiencyFoley et al. 2021 Proband
245590.1.2United Arab Emirates2PathogenicGrowth Hormone Insensitivity with ImmunodeficiencyFoley et al. 2021 Brother of 245590.1.1
245590.1.3United Arab Emirates2PathogenicGrowth Hormone Insensitivity with ImmunodeficiencyFoley et al. 2021 Sister of 245590.1.1
245590.1.4United Arab Emirates1Foley et al. 2021 Mother of 245590.1.1
245590.1.5United Arab Emirates1Foley et al. 2021 Father of 245590.1.1
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Contributors

  • Sami Bizzari: 10.05.2022

Edit History

  • Sami Bizzari: 10.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.