NM_017519.3:c.5080C>T

HGVS Expressions

  • NG_032093.2:g.428535C>T
  • NM_017519.3:c.5080C>T
  • NP_059989.3:p.Arg1694Ter
  • NC_000006.12:g.157201464C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

503753

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
135900.1United Arab Emirates1PathogenicCoffin-Siris Syndrome 1Al-Shamsi et al. 2016; Saleh et al. 2021 de novo mutation
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