NM_015308.5:c.683C>T

HGVS Expressions

  • NG_053146.1:g.21234C>T
  • NM_015308.5:c.683C>T
  • NP_056123.2:p.Thr228Met

Associated Genes

Formin-Binding Protein 4
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Genomic Location

chr11:47751245

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

267296

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
206920.1.1Lebanon2Likely PathogenicMicrophthalmia with Limb AnomaliesMegarbane et al. 1998; Kondo et al, 2013
206920.1.2Lebanon1Likely PathogenicMegarbane et al. 1998; Kondo et al, 2013 Unaffected father of 206920.1.1
206920.1.3Lebanon1Likely PathogenicMegarbane et al. 1998; Kondo et al, 2013 Unaffected mother of 206920.1.1
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