NM_000372.5:c.816G>C

HGVS Expressions

  • NG_008748.1:g.5898G>C
  • NM_000372.5:c.816G>C
  • NP_000363.1:p.Trp272Cys
  • NC_000011.10:g.89178769G>C

Associated Genes

Tyrosinase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

99581

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245000.1.1Jordan2Likely PathogenicOculocutaneous Albinism, Type IAHattab and Amin, 2005 Proband
245000.1.2Jordan2Likely PathogenicOculocutaneous Albinism, Type IAHattab and Amin, 2005 Brother of 245000.1.1
245000.1.3Jordan1Likely PathogenicHattab and Amin, 2005 Sister of 245000.1.1
245000.5.1Egypt2Likely PathogenicOculocutaneous Albinism, Type IAHewitt et al. 2004 The patient also had a grandfather with ...
245000.5.2Egypt1Likely PathogenicHewitt et al. 2004 Unaffected father of 245000.5.1
245000.5.3Egypt1Likely PathogenicHewitt et al. 2004 Unaffected mother of 245000.5.1
245000.5.4Egypt1Likely PathogenicHewitt et al. 2004 Unaffected brother of 245000.5.1
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