NM_001466.3:c.254C>A

HGVS Expressions

  • NM_001466.3:c.254C>A
  • NP_001457.1:p.Ser85Ter
  • NC_000017.11:g.44557942C>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
164745.1United Arab Emirates1Likely PathogenicOmodysplasia 2Saleh et al. 2021 De novo mutation
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