NM_153717.3:c.1813C>T

HGVS Expressions

  • NG_008843.1:g.87448C>T
  • NM_153717.3:c.1813C>T
  • NP_714928.1:p.Gln605Ter
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Genomic Location

chr4:5793644

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

555660

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225500.3.1Sudan2PathogenicEllis-van Creveld SyndromeAli et al. 2010 Patient was diagnosed prenatally by ultr...
225500.3.2Sudan1PathogenicAli et al. 2010 Father of 225500.3.1
225500.3.3Sudan1PathogenicAli et al. 2010 Mother of 225500.3.1
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