NM_014028.4:c.949+5G>A

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HGVS Expressions

  • NG_007262.1:g.30490G>A
  • NM_014028.4:c.949+5G>A

Associated Genes

Osteopetrosis-Associated Transmembrane Protein 1
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Genomic Location

chr6:108049248

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1562370077

Clinvar

2942

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259720.5Lebanon2PathogenicOsteopetrosis, Autosomal Recessive 5Souraty et al. 2007
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Contributors

  • Pratibha Nair: 01.04.2020

Edit History

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