NM_177924.5:c.290T>G

HGVS Expressions

  • NG_008985.2:g.20194T>G
  • NM_177924.5:c.290T>G
  • NP_808592.2:p.Val97Gly
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Genomic Location

chr8:18069805

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

812472

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228000.1.1Saudi Arabia2Likely PathogenicFarber LipogranulomatosisChedrawi et al. 2012
228000.1.2Saudi Arabia2Likely PathogenicFarber LipogranulomatosisChedrawi et al. 2012 Fraternal twin sister of 228000.1.1
228000.1.3Saudi Arabia1Likely PathogenicChedrawi et al. 2012 Father of 228000.1.1
228000.1.4Saudi Arabia1Likely PathogenicChedrawi et al. 2012 Mother of 228000.1.1
228000.1.5Saudi Arabia1Likely PathogenicChedrawi et al. 2012 Sister of 228000.1.1
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