NM_001204077.2:c.384G>A

HGVS Expressions

  • NG_047106.1:g.14931G>A
  • NM_001204077.2:c.384G>A
  • NP_001191006.1:p.Trp128Ter
  • NC_000011.10:g.118369511G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1326859

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619639.1.1Saudi Arabia2NAPathogenicNeurodevelopmental Disorder with Hypotonia and Gross Motor and Speech DelayAnazi et al. 2017a; Melo et al. 2021 Patient from 'family C' in Melo et al. 2...
619639.1.2Saudi Arabia2NAPathogenicNeurodevelopmental Disorder with Hypotonia and Gross Motor and Speech DelayAnazi et al. 2017a; Melo et al. 2021 Sister of 619639.1.1
619639.1.3Saudi Arabia1NAMelo et al. 2021 Father of 619639.1.1
619639.1.4Saudi Arabia1NAMelo et al. 2021 Mother of 619639.1.1
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