NM_182894.3:c.599G>C

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HGVS Expressions

  • NG_013092.1:g.25150G>C
  • NM_182894.3:c.599G>C
  • NP_878314.1:p.Arg200Pro
  • NC_000014.9:g.74259621G>C

Associated Genes

Visual System Homeobox 2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121912543

Clinvar

14861

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610092.1United Arab Emirates2Likely PathogenicMicrophthalmia, Isolated, with Coloboma 3Ferda Percin et al. 2000
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Contributors

  • Pratibha Nair: 20.07.2022

Edit History

  • Pratibha Nair: 20.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.