NM_012293.3:c.4085_4086del

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  2. NM_012293.3:c.4085_4086del

HGVS Expressions

  • NG_034221.1:g.110581_110582del
  • NM_012293.3:c.4085_4086del
  • NP_036425.1:p.Gln1362ArgfsTer22
  • NC_000002.12:g.1638966_1638967del

Associated Genes

Peroxidasin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

967959245

Clinvar

932291

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
269400.2Egypt2Likely PathogenicAnterior Segment Dysgenesis 7Patel et al. 2018
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Contributors

  • Pratibha Nair: 04.10.2023

Edit History

  • Pratibha Nair: 04.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.