NM_000088.4:c.299-2A>G

HGVS Expressions

  • NG_007400.1:g.7048A>G
  • NM_000088.4:c.299-2A>G
  • NC_000017.11:g.50199592T>C
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166200.4.1Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IMaddirevula et al. 2018
166200.4.2Saudi Arabia1NAPathogenicOsteogenesis Imperfecta, Type IMaddirevula et al. 2018 Relative of 166200.4.1
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