NM_015972.4:c.388G>T

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  2. NM_015972.4:c.388G>T

HGVS Expressions

  • NG_028908.1:g.7494G>T
  • NM_015972.4:c.388G>T
  • NP_057056.1:p.Glu130Ter
  • NC_000013.11:g.27623236G>T

Associated Genes

Polymerase I, RNA, Subunit D
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1955970947

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613717.1Saudi Arabia1Likely PathogenicTreacher Collins Syndrome 2Monies et al. 2017
613717.2Saudi Arabia1Likely PathogenicTreacher Collins Syndrome 2Monies et al. 2017
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Contributors

  • Asha Deepthi: 14.11.2024

Edit History

  • Asha Deepthi: 14.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.