NM_002546.4:c.887dup

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HGVS Expressions

  • NG_012202.1:g.32452dup
  • NM_002546.4:c.887dup
  • NP_002537.3:p.Ser297Ter
  • NC_000008.11:g.118924693dup

Associated Genes

Tumor Necrosis Factor Receptor Superfamily, Member 11B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1554617110

Clinvar

191343

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
239000.1.1Egypt2NALikely PathogenicPaget Disease of Bone 5, Juvenile-OnsetMaddirevula et al. 2018
239000.1.2Egypt2NALikely PathogenicPaget Disease of Bone 5, Juvenile-OnsetMaddirevula et al. 2018 Relative of 239000.1.1
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Contributors

  • Asha Deepthi: 21.02.2022

Edit History

  • Asha Deepthi: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.