NM_000271.5:c.2974G>T

HGVS Expressions

  • NG_012795.1:g.53009G>T
  • NM_000271.5:c.2974G>T
  • NP_000262.2:p.Gly992Trp
  • NC_000018.10:g.23538609C>A
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2960

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
257220.G.1Palestine2PathogenicNiemann-Pick Disease, Type C1Al-Jasmi et al. 2013 2 Palestinian patients with infantile on...
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