NM_001368894.2:c.664C>T

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  2. NM_001368894.2:c.664C>T

HGVS Expressions

  • NG_008679.1:g.28272C>T
  • NM_001368894.2:c.664C>T
  • NP_001355823.1:p.Arg222Trp
  • NC_000011.10:g.31794690G>A

Associated Genes

Paired Box Gene 6
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

757259413

Clinvar

372441

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604229.1Saudi Arabia1Likely PathogenicAnterior Segment Dysgenesis 5Patel et al. 2018 de novo mutation
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Contributors

  • Pratibha Nair: 28.09.2023

Edit History

  • Pratibha Nair: 28.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.