NM_016941.4:c.1136G>A

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HGVS Expressions

  • NG_008256.1:g.13165G>A
  • NM_016941.4:c.1136G>A
  • NP_058637.1:p.Cys379Tyr
  • NC_000019.10:g.39507081G>A

Associated Genes

Delta-Like 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205519

Clinvar

191104

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277300.4.1Saudi Arabia2NAPathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Maddirevula et al. 2018
277300.4.2Saudi Arabia2NAPathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Maddirevula et al. 2018 Relative of 277300.4.1
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Contributors

  • Asha Deepthi: 11.11.2021

Edit History

  • Asha Deepthi: 11.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.