NM_025074.7:c.9524A>C

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HGVS Expressions

  • NG_015812.2:g.456181A>C
  • NM_025074.7:c.9524A>C
  • NP_079350.5:p.Tyr3175Ser
  • NC_000004.12:g.78508750A>C

Associated Genes

FRAS1 Gene
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219000.1United Arab Emirates2NALikely PathogenicFraser Syndrome 1van Haelst et al. 2008 'Family 23' in the publication
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Contributors

  • Asha Deepthi: 15.07.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 20.12.2020
  • Asha Deepthi: 15.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.