NM_001330437.1:c.922A>G

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  2. NM_001330437.1:c.922A>G

HGVS Expressions

  • NG_007459.1:g.63988A>G
  • NM_001330437.1:c.922A>G
  • NP_001317366.1:p.Asn308Asp
  • NC_000012.12:g.112477719A>G

Associated Genes

Protein-Tyrosine Phosphatase, Nonreceptor-Type, 11
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

28933386

Clinvar

13326

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
163950.4Morocco1Likely PathogenicNoonan Syndrome 1Kruszka et al. 2017
163950.5United Arab Emirates1PathogenicNoonan Syndrome 1Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 09.09.2021
  • Pratibha Nair: 05.07.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 09.09.2021
  • Pratibha Nair: 05.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.