NM_014714.4:c.1541_1542delinsAA

HGVS Expressions

  • NG_032783.1:g.45591_45592delinsAA
  • NM_014714.4:c.1541_1542delinsAA
  • NP_055529.2:p.Leu514Gln
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Genomic Location

chr16:1571517-1571518

Clinvar Clinical Significance

Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

288071

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617781.11Saudi Arabia2PathogenicRetinitis Pigmentosa 80Bifari et al. 2016 The patient had 3 sisters and a nephew t...
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