NM_015062.5:c.1825C>T

HGVS Expressions

  • NG_047132.2:g.25446C>T
  • NM_015062.5:c.1825C>T
  • NP_055877.3:p.Pro609Ser
  • NC_000010.11:g.102140333C>T
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

2689822

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617462.1.1Egypt2Likely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
617462.1.2Egypt2Likely PathogenicReuter et al. 2017 Relative of 617462.1.1
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