NM_001122659.3:c.1025G>T

HGVS Expressions

  • NM_001122659.3:c.1025G>T
  • NP_001116131.1:p.Ser342Ile
  • NC_000013.11:g.77900581C>A
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Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277580.1.1Lebanon2Waardenburg Syndrome, Type 4AHaddad et al., 2011
277580.1.2Lebanon1Haddad et al., 2011 Father of 277580.1.1
277580.1.3Lebanon1Haddad et al., 2011 Mother of 277580.1.1
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