NM_080605.4:c.845_846delinsTA

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HGVS Expressions

  • NG_033265.1:g.5875_5876delinsTA
  • NM_080605.4:c.845_846delinsTA
  • NP_542172.2:p.Ser282Ile
  • NC_000001.11:g.1233123_1233124delinsTA

Associated Genes

Beta-1,3-Galactosyltransferase 6
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615349.2Sudan2Likely PathogenicEhlers-Danlos Syndrome, Spondylodysplastic Type, 2Ranza et al. 2017
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Contributors

  • Pratibha Nair: 04.07.2022

Edit History

  • Pratibha Nair: 04.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.