NM_003620.4:c.939_940del

HGVS Expressions

  • NM_003620.4:c.939_940del
  • NP_003611.1:p.Ser313ArgfsTer28
  • NC_000017.11:g.60648004_60648005del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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