NM_001257966.1:c.1733T>A

HGVS Expressions

  • NG_008483.2:g.225100T>A
  • NM_001257966.1:c.1733T>A
  • NP_001244895.1:p.Val578Glu
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Genomic Location

chr1:197421561

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613835.G.3PalestinePathogenicLeber Congenital Amaurosis 8Beryozkin et al. 2013 Group consisting of affected members fro...
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