NM_001371623.1:c.2656C>T

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HGVS Expressions

  • NG_011341.1:g.26768C>T
  • NM_001371623.1:c.2656C>T
  • NP_001358552.1:p.Gln886Ter
  • NC_000005.10:g.150379406C>T

Associated Genes

Treacle Ribosome Biogenesis Factor 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205575

Clinvar

191202

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
154500.1Saudi Arabia2NAPathogenicTreacher Collins Syndrome 1Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 18.02.2022

Edit History

  • Asha Deepthi: 18.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.