NM_000214.2:c.235C>T

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HGVS Expressions

  • NG_007496.1:g.6194C>T
  • NM_000214.2:c.235C>T
  • NP_000205.1:p.Leu79Phe
  • NC_000020.11:g.10672853G>A

Associated Genes

Jagged 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1710482

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
118450.G.1OmanLikely PathogenicAlagille Syndrome 1Al-Gazali and Ali, 2010 Family with unknown number of members ca...
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Contributors

  • Sayeeda Hana: 30.12.2019

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 30.12.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.