NM_172390.2:c.2101A>C

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HGVS Expressions

  • NG_029226.1:g.76820A>C
  • NM_172390.2:c.2101A>C
  • NP_765978.1:p.Ile701Leu
  • NC_000018.10:g.79467591A>C

Associated Genes

Nuclear factor of Activated T-cells, Cytoplasmic, Calcineurin-Dependent 1
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

113736099

Clinvar

1602470

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605067.1.1Lebanon1Likely PathogenicTricuspid atresiaAbdul-Sater et al, 2012
605067.1.2Lebanon1Likely PathogenicAbdul-Sater et al, 2012 Unaffected father of 605067.1.1
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Contributors

  • Sayeeda Hana: 28.07.2019

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 28.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.