NM_002408.3:c.711G>C

HGVS Expressions

  • NG_033054.1:g.3653C>G
  • NM_002408.3:c.711G>C
  • NP_002399.1:p.Lys237Asn
  • NC_000014.9:g.49621979G>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30270

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212066.2.1Saudi Arabia2PathogenicCongenital Disorder Of Glycosylation, Type IIaAlazami et al. 2012; Alkuraya. 2010 Similarly affected brother and sister we...
212066.2.2Saudi Arabia2PathogenicCongenital Disorder Of Glycosylation, Type IIaAlazami et al. 2012; Alkuraya. 2010 First cousin of 212066.2.1. Similarly af...
212066.2.3Saudi Arabia2PathogenicCongenital Disorder Of Glycosylation, Type IIaAlazami et al. 2012; Alkuraya. 2010 Niece of 212066.2.2
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