NM_001378778.1:c.628C>T

HGVS Expressions

  • NG_042810.1:g.62213C>T
  • NM_001378778.1:c.628C>T
  • NP_001365707.1:p.Gln210Ter
  • NC_000009.12:g.13222352G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

50213

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615219.3.1Saudi Arabia2PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Shaheen et al. 2017; Al-Dosari et al. 2013 Proband
615219.3.2Saudi Arabia2PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Shaheen et al. 2017; Al-Dosari et al. 2013 Maternal uncle of 615219.3.1. Subject ha...
615219.3.3Saudi Arabia2PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Shaheen et al. 2017; Al-Dosari et al. 2013 Maternal aunt of 615219.3.1. and sibling...
615219.4Saudi Arabia2PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Shaheen et al. 2017; Al-Dosari et al. 2013 Subject had two older deceased siblings....
615219.5Saudi Arabia2PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Shaheen et al. 2017 Subject had an older brother with severe...
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