NM_080605.4:c.530GCC[6]

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  2. NM_080605.4:c.530GCC[6]

HGVS Expressions

  • NG_033265.1:g.5560GCC[6]
  • NM_080605.4:c.530GCC[6]
  • NC_000001.11:g.1232808GCC[6]

Associated Genes

Beta-1,3-Galactosyltransferase 6
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1057034356

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
271640.3Saudi Arabia2NALikely PathogenicSpondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without FracturesMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 25.10.2021

Edit History

  • Asha Deepthi: 25.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.