NM_001271440.1:c.640-23A>T

HGVS Expressions

  • NG_032952.1:g.14054A>T
  • NM_001271440.1:c.640-23A>T
  • NC_000021.9:g.44330349T>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

428579

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602271.1.1Saudi Arabia2NAPathogenicSpondylometaphyseal Dysplasia, AxialMaddirevula et al. 2018
602271.1.2Saudi Arabia2NAPathogenicSpondylometaphyseal Dysplasia, AxialMaddirevula et al. 2018 Relative of 602271.1.1
602271.1.3Saudi Arabia2NAPathogenicSpondylometaphyseal Dysplasia, AxialMaddirevula et al. 2018 Relative of 602271.1.1
602271.3.1Saudi Arabia2NAPathogenicSpondylometaphyseal Dysplasia, AxialMaddirevula et al. 2018
602271.3.2Saudi Arabia2NAPathogenicSpondylometaphyseal Dysplasia, AxialMaddirevula et al. 2018 Relative of 602271.3.1
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