NM_001029883.3:c.1377delT

HGVS Expressions

  • NG_021427.1:g.6377del
  • NM_001029883.3:c.1377delT
  • NP_001025054.1:p.Phe459LeufsTer39
  • NC_000002.12:g.29072887del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

978989

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613428.G.2Iraq4Likely PathogenicRetinitis Pigmentosa 54Patel et al, 2018 2 family members
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