NM_024876.4:c.748G>A

HGVS Expressions

  • NG_027800.1:g.18294G>A
  • NM_024876.4:c.748G>A
  • NP_079152.3:p.Asp250Asn
  • NC_000019.10:g.40703592C>T

Associated Genes

Coenzyme Q8B
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

988900

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615573.4.1Arab2PathogenicNephrotic Syndrome, Type 9Korkmaz et al, 2016
615573.4.2Arab2PathogenicNephrotic Syndrome, Type 9Korkmaz et al, 2016 Sister of 615573.4.1
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