NM_004431.5:c.2007G>T

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  2. NM_004431.5:c.2007G>T

HGVS Expressions

  • NG_021396.1:g.27862G>T
  • NM_004431.5:c.2007G>T
  • NP_004422.2:p.Gln669His
  • NC_000001.11:g.16133226C>A

Associated Genes

Ephrin Receptor EphA2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205441

Clinvar

190978

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
116600.3.1Saudi Arabia1PathogenicCataract 6, Multiple Types
116600.3.2Saudi Arabia1PathogenicCataract 6, Multiple Types Relative of 116600.3.1
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Contributors

  • Sayeeda Hana: 08.03.2023

Edit History

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