NM_006162.4:c.197C>T

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  2. NM_006162.4:c.197C>T

HGVS Expressions

  • NG_029226.1:g.19701C>T
  • NM_006162.4:c.197C>T
  • NP_006153.2:p.Pro66Gln

Associated Genes

Nuclear factor of Activated T-cells, Cytoplasmic, Calcineurin-Dependent 1
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Genomic Location

chr18:79410472

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

148104245

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

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