NM_000329.2:c.271C>T

HGVS Expressions

  • NG_008472.1:g.10102C>T
  • NM_000329.2:c.271C>T
  • NP_000320.1:p.Arg91Trp
  • NC_000001.11:g.68444858G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

13115

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.3United Arab Emirates2PathogenicLeber Congenital Amaurosis 2Saleh et al. 2021
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