NM_014028.4:c.415_416del

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HGVS Expressions

  • NG_007262.1:g.15447AG[2]
  • NM_014028.4:c.415_416del
  • NP_054747.2:p.Gln140Glufs*11
  • NC_000006.12:g.108064286CT[2]

Associated Genes

Osteopetrosis-Associated Transmembrane Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

794727287

Clinvar

195291

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259720.1.1Kuwait2PathogenicOsteopetrosis, Autosomal Recessive 5Ramírez et al. 2004 Had an affected deceased sibling
259720.1.2Kuwait1PathogenicRamírez et al. 2004 Mother of 259720.1.1
259720.1.3Kuwait1PathogenicRamírez et al. 2004 Father of 259720.1.1
259720.2Kuwait2PathogenicOsteopetrosis, Autosomal Recessive 5Pangrazio et al. 2006
259720.4Kuwait2PathogenicOsteopetrosis, Autosomal Recessive 5Pangrazio et al. 2006 Had three similarly affected deceased si...
259720.6Saudi Arabia2NAPathogenicOsteopetrosis, Autosomal Recessive 5Maddirevula et al. 2018
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Contributors

  • Pratibha Nair: 01.04.2020

Edit History

  • Asha Deepthi: 09.02.2022
  • Sayeeda Hana: 27.09.2020
  • Pratibha Nair: 01.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.