NM_152443.3:c.139G>A

HGVS Expressions

  • NG_008321.1:g.27658G>A
  • NM_152443.3:c.139G>A
  • NP_689656.2:p.Ala47Thr
  • NC_000014.9:g.67724543G>A

Associated Genes

Retinol Dehydrogenase 12
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Risk factor

Variant Type

Substitution

Clinvar

852972

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612712.G.1Saudi Arabia2Risk factorLeber Congenital Amaurosis 13Patel et al, 2018 4 members of a family
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