NM_000208.4:c.3356G>A

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  2. NM_000208.4:c.3356G>A

HGVS Expressions

  • NG_008852.2:g.176109G>A
  • NM_000208.4:c.3356G>A
  • NP_000199.2:p.Arg1119Gln
  • NC_000019.10:g.7122892C>T

Associated Genes

Insulin Receptor
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1160859936

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609968.1.1United Arab Emirates1Likely PathogenicHyperinsulinemic Hypoglycemia, Familial, 5Sethi et al. 2020 Family history included Type 2 Diabetes ...
609968.1.2United Arab Emirates1Sethi et al. 2020 Mother of 609968.1.1
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Contributors

  • Sayeeda Hana: 11.05.2022

Edit History

  • Pratibha Nair: 02.01.2023
  • Sayeeda Hana: 11.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.