NM_000142.5:c.1172C>A

HGVS Expressions

  • NG_012632.1:g.16115C>A
  • NM_000142.5:c.1172C>A
  • NP_000133.1:p.Ala391Glu
  • NC_000004.12:g.1804426C>A
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Clinical Significance

Likely Pathogenic,Pathogenic

Variant Type

Substitution

Clinvar

16329

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
612247.1Saudi Arabia1NAPathogenicCrouzon Syndrome with Acanthosis NigricansMaddirevula et al. 2018 Mutation is de novo. Patient's parents a...
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