NM_025132.4:c.2777G>T

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HGVS Expressions

  • NG_031813.1:g.75790G>T
  • NM_025132.4:c.2777G>T
  • NP_079408.3:p.Ser926Ile
  • NC_000004.12:g.39253193G>T

Associated Genes

WD Repeat-Containing Protein 19
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

751386429

Clinvar

191190

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.10Saudi Arabia2Likely PathogenicRetinitis PigmentosaPatel et al. 2016
614378.1Saudi Arabia2NALikely PathogenicCranioectodermal Dysplasia 4Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 23.02.2022

Edit History

  • Sayeeda Hana: 20.08.2024
  • Asha Deepthi: 23.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.