NM_024911.7:c.1433A>G

HGVS Expressions

  • NM_024911.7:c.1433A>G
  • NP_079187.3:p.Tyr478Cys
  • NC_000001.11:g.68137863T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1098568

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619648.2.1Egypt2NAPathogenicZaki SyndromeChai et al. 2021 Patient from 'family 2' in the publicati...
619648.2.2Egypt2NAPathogenicZaki SyndromeChai et al. 2021 Sister of 619648.2.1
619648.2.GEgypt3NAChai et al. 2021 Relatives of 619648.2.1 & 619648.2.2 (pa...
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