NM_015909.3:c.409C>T

HGVS Expressions

  • NG_032964.1:g.27022C>T
  • NM_015909.3:c.409C>T
  • NP_056993.2:p.Arg137Trp
  • NC_000002.12:g.15539327G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

218416

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616483.1.1Lebanon2PathogenicInfantile Liver Failure Syndrome 2Capo-Chichi et al, 2015; Mégarbané et al, 2008
616483.1.2Lebanon2PathogenicInfantile Liver Failure Syndrome 2Capo-Chichi et al, 2015; Mégarbané et al, 2008 Sister of 616483.1.1
616483.1.3Lebanon2PathogenicInfantile Liver Failure Syndrome 2Capo-Chichi et al, 2015 Brother of 616483.1.1
616483.1.4Lebanon1PathogenicCapo-Chichi et al, 2015 Unaffected father of of 616483.1.1
616483.1.5Lebanon1PathogenicCapo-Chichi et al, 2015 Unaffected mother of of 616483.1.1
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