NM_001330437.1:c.836A>G

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  2. NM_001330437.1:c.836A>G

HGVS Expressions

  • NG_007459.1:g.59292A>G
  • NM_001330437.1:c.836A>G
  • NP_001317366.1:p.Tyr279Cys
  • NC_000012.12:g.112473023A>G

Associated Genes

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

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121918456

Clinvar

13328

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
163950.3Lebanon1Likely PathogenicNoonan Syndrome 1Kruszka et al. 2017
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Contributors

  • Pratibha Nair: 05.07.2021

Edit History

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