NM_020184.3:c.707G>A

HGVS Expressions

  • NG_016608.1:g.5805G>A
  • NM_020184.3:c.707G>A
  • NP_064569.3:p.Arg236Gln
  • NC_000002.12:g.96761706G>A

Associated Genes

Cyclin M4
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

2848

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
217080.1.1Lebanon2NALikely PathogenicJalili SyndromePolok et al. 2009 Proband from 'Family B' in the publicati...
217080.1.2Lebanon2NALikely PathogenicJalili SyndromePolok et al. 2009 Sister of 217080.1.1
217080.1.3Lebanon1NAPolok et al. 2009 Father of 217080.1.1
217080.1.4Lebanon1NAPolok et al. 2009 Mother of 217080.1.1
217080.1.5Lebanon2NALikely PathogenicJalili SyndromePolok et al. 2009 Maternal cousin of 217080.1.1
217080.1.6Lebanon1NAPolok et al. 2009 Maternal uncle of 217080.1.1, father of ...
217080.1.7Lebanon1NAPolok et al. 2009 Maternal aunt of 217080.1.1, mother of 2...
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