NM_000490.5:c.121-2A>G

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  2. NM_000490.5:c.121-2A>G

HGVS Expressions

  • NG_008663.1:g.6545A>G
  • NM_000490.5:c.121-2A>G

Associated Genes

Arginine Vasopressin
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Genomic Location

chr20:3083180

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

922677724

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125700.1.1Lebanon1PathogenicDiabetes Insipidus, Neurohypophyseal TypeBourdet et al, 2016 Patient born to a Lebanese father and a ...
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Contributors

  • Sayeeda Hana: 27.05.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 27.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.