NM_001029871.4:c.164_165delinsAA

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HGVS Expressions

  • NG_013043.1:g.39211_39212delinsAA
  • NM_001029871.4:c.164_165delinsAA
  • NP_001025042.2:p.Phe55Ter
  • NC_000020.11:g.968053_968054delinsTT

Associated Genes

R-Spondin Family, Member 4
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CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
206800.1.1Lebanon2PathogenicNail Disorder, Nonsyndromic Congenital, 4Khalil et al, 2017
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Contributors

  • Sayeeda Hana: 20.08.2019

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 20.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.