NM_001252020.1:c.1577T>A

HGVS Expressions

  • NG_016453.2:g.116853T>A
  • NM_001252020.1:c.1577T>A
  • NP_001238949.1:p.Met526Lys
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Genomic Location

chr15:31049421

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613216.G.1Saudi Arabia4Uncertain SignificanceNight Blindness, Congenital Stationary, Type 1CPatel et al, 2018 2 members of a family
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