NM_024911.7:c.1175A>G

HGVS Expressions

  • NM_024911.7:c.1175A>G
  • NP_079187.3:p.Tyr392Cys
  • NC_000001.11:g.68145972T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1098567

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619648.1.1United Arab Emirates2NAPathogenicZaki SyndromeChai et al. 2021 Patient from 'family 1' in the publicati...
619648.1.2United Arab Emirates2NAPathogenicZaki SyndromeChai et al. 2021 Sister of 619648.1.1
619648.1.3United Arab Emirates2NAPathogenicZaki SyndromeChai et al. 2021 Sister of 619648.1.1
619648.1.4United Arab Emirates2NAPathogenicZaki SyndromeChai et al. 2021 Sister of 619648.1.1
619648.1.5United Arab Emirates2NAPathogenicZaki SyndromeChai et al. 2021 Brother of 619648.1.1
619648.1.6United Arab Emirates1NAChai et al. 2021 Father of 619648.1.1
619648.1.7United Arab Emirates1NAChai et al. 2021 Mother of 619648.1.1
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