NM_014382.4:c.2371_2374delTTGT

HGVS Expressions

  • NG_007379.2:g.152209_152212delTTGT
  • NM_014382.4:c.2371_2374delTTGT
  • NP_055197.2:p.Phe792fs
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Genomic Location

chr3:130997733-130997736

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

372308

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
169600.3Lebanon1PathogenicBenign Chronic PemphigusBtadini et al. 2015
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