NM_002435.2:c.413T>C

HGVS Expressions

  • NG_008921.1:g.7660T>C
  • NM_002435.2:c.413T>C
  • NP_002426.1:p.Met138Thr
  • NC_000015.10:g.74892728T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

14347

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602579.1Lebanon1PathogenicCongenital Disorder of Glycosylation, Type IbJaeken et al, 1998 Compound heterozygous
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