NM_001136035.4:c.1332_1333del

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HGVS Expressions

  • NG_054900.1:g.13122_13123del
  • NM_001136035.4:c.1332_1333del
  • NP_001129507.1:p.Tyr445LeufsTer28
  • NC_000019.10:g.13109446_13109447del

Associated Genes

tRNA Methyltransferase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1203487591

Clinvar

617604

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618302.1Saudi Arabia2PathogenicIntellectual Developmental Disorder, Autosomal Recessive 68Monies et al. 2017
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Contributors

  • Asha Deepthi: 03.01.2025

Edit History

  • Asha Deepthi: 03.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.