NM_001015877.1:c.391C>T

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HGVS Expressions

  • NG_008886.1:g.25614C>T
  • NM_001015877.1:c.391C>T
  • NP_001015877.1:p.His131Tyr
  • NC_000023.11:g.134393925C>T

Associated Genes

PHD Finger Protein 6
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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
301900.2United Arab Emirates1Likely PathogenicBorjeson-Forssman-Lehmann SyndromeSaleh et al. 2021 Cousin with autism
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Contributors

  • Pratibha Nair: 24.01.2022

Edit History

  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 24.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.