NM_014028.4:c.36T>A

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  2. NM_014028.4:c.36T>A

HGVS Expressions

  • NG_007262.1:g.5122T>A
  • NM_014028.4:c.36T>A
  • NP_054747.2:p.Cys12Ter

Associated Genes

Osteopetrosis-Associated Transmembrane Protein 1
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Genomic Location

chr6:108074616

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

119460973

Clinvar

2944

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259720.3.1Lebanon2PathogenicOsteopetrosis, Autosomal Recessive 5Pangrazio et al. 2006 Had an affected deceased sibling
259720.3.2Lebanon2PathogenicOsteopetrosis, Autosomal Recessive 5Souraty et al. 2007 Sibling of 259720.3.1. Dizygotic female ...
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Contributors

  • Pratibha Nair: 01.04.2020

Edit History

  • Pratibha Nair: 01.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.