NM_001099274.1:c.734C>A

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HGVS Expressions

  • NG_016650.1:g.6929C>A
  • NM_001099274.1:c.734C>A
  • NP_001092744.1:p.Ser245Tyr
  • NC_000014.9:g.24240746G>T

Associated Genes

TRF1-Interacting Nuclear Factor 2
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

142777869

Clinvar

38916

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613990.1United Arab Emirates1Likely PathogenicDyskeratosis Congenita, Autosomal Dominant 3Alsamri et al. 2020; Alsamri et al. 2021 Authors mention that variant 10352C>T ma...
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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 17.02.2022
  • Pratibha Nair: 15.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.