NM_178161.3:c.437_460del

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HGVS Expressions

  • NG_009798.1:g.5437_5460del
  • NM_178161.3:c.437_460del
  • NP_835455.1:p.Ala146_Arg154delinsGly
  • NC_000010.11:g.23192967_23192990del

Associated Genes

Pancreas Transcription Factor 1, Alpha Subunit
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

30651

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609069.1Saudi Arabia2NAPathogenicPancreatic and Cerebellar AgenesisAl-Shammari et al. 2011
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Contributors

  • Asha Deepthi: 21.10.2022

Edit History

  • Asha Deepthi: 21.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.