NM_004078.3:c.447_460dup

HGVS Expressions

  • NC_000001.11:g.201485341_201485328dup
  • NM_004078.3:c.447_460dup
  • NP_001180500.1:p.Glu154Valfs*99
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Genomic Location

chr1:201485341_201485328

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
306955.2.1Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017
306955.2.2Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017 Sibling of 306955.2.1
306955.2.3Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017 Sibling of 306955.2.1. Monozygotic twin ...
306955.2.4Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017 Sibling of 306955.2.1. Monozygotic twin ...
306955.2.5Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKamar et al. 2017 Father of 306955.2.1
306955.2.6Lebanon1Likely PathogenicKamar et al. 2017 Mother of 306955.2.1
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