NM_016941.4:c.599_603dup

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  2. NM_016941.4:c.599_603dup

HGVS Expressions

  • NG_008256.1:g.9083GCGGT[3]
  • NM_016941.4:c.599_603dup
  • NP_058637.1:p.Pro202AlafsTer41
  • NC_000019.10:g.39502999GCGGT[3]

Associated Genes

Delta-Like 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

786200899

Clinvar

6828

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277300.5Arab2NAPathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Maddirevula et al. 2018
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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.