NM_004431.3:c.1315C>T

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HGVS Expressions

  • NG_021396.1:g.25320C>T
  • NM_004431.3:c.1315C>T
  • NP_004422.2:p.Pro439Ser
  • NC_000001.11:g.16135768G>A

Associated Genes

Ephrin Receptor EphA2
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

946986272

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
116600.2Saudi Arabia2PathogenicCataract 6, Multiple TypesPatel et al. 2017
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Contributors

  • Sayeeda Hana: 08.03.2023

Edit History

  • Pratibha Nair: 22.03.2023
  • Sayeeda Hana: 08.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.