NM_002834.5:c.1510A>G

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  2. NM_002834.5:c.1510A>G

HGVS Expressions

  • NG_007459.1:g.75355A>G
  • NM_002834.5:c.1510A>G
  • NP_002825.3:p.Met504Val
  • NC_000012.12:g.112489086A>G

Associated Genes

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

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397507547

Clinvar

40562

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
156250.1Saudi Arabia1NAPathogenicMetachondromatosisMaddirevula et al. 2018 De novo mutation
163950.2Lebanon1PathogenicNoonan Syndrome 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 06.12.2020

Edit History

  • Asha Deepthi: 11.02.2022
  • Pratibha Nair: 06.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.