NM_000260.4:c.578C>T

HGVS Expressions

  • NG_009086.2:g.33522C>T
  • NM_000260.4:c.578C>T
  • NP_000251.3:p.Thr193Ile

Associated Genes

Myosin VIIA
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Genomic Location

chr11:77156767

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

500317

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.3.1Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Wang et al. 2011
204000.3.2Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 Sister of 204000.3.1
204000.3.3Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 Brother of 204000.3.1
204000.3.4Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 Relative of 204000.3.1
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