NM_000067.3:c.232+1G>A

HGVS Expressions

  • NG_007287.1:g.6454G>A
  • NM_000067.3:c.232+1G>A
  • NP_000058.1:p.?
  • NC_000008.11:g.85465470G>A

Associated Genes

Carbonic Anhydrase II
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

288909

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259730.1.1Saudi Arabia2NAPathogenicOsteopetrosis, Autosomal Recessive 3Maddirevula et al. 2018
259730.1.2Saudi Arabia2NAPathogenicOsteopetrosis, Autosomal Recessive 3Maddirevula et al. 2018 Relative of 259730.1.1
259730.1.3Saudi Arabia2NAPathogenicOsteopetrosis, Autosomal Recessive 3Maddirevula et al. 2018 Relative of 259730.1.1
259730.2Saudi Arabia2NAPathogenicOsteopetrosis, Autosomal Recessive 3Maddirevula et al. 2018
259730.4United Arab Emirates2Likely PathogenicOsteopetrosis, Autosomal Recessive 3Alabdullatif et al. 2017 Similarly affected sister
259730.G.1United Arab Emirates4PathogenicOsteopetrosis, Autosomal Recessive 3Al-Shamsi et al. 2014 2 Emirati patients
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