NM_000372.5:c.1037G>A

HGVS Expressions

  • NG_008748.1:g.54952G>A
  • NM_000372.5:c.1037G>A
  • NP_000363.1:p.Gly346Glu
  • NC_000011.10:g.89227823G>A

Associated Genes

Tyrosinase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

617799

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203100.G.1LebanonLikely PathogenicOculocutaneous Albinism, Type IA; Albinism, Oculocutaneous, Type 1BZahed et al. 2005 Group of 14 patients with both homozygou...
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