NM_002506.3:c.680_682delinsA

HGVS Expressions

  • NG_007944.1:g.57121_57123delinsA
  • NM_002506.3:c.680_682delinsA
  • NC_000001.11:g.115286114_115286116delinsT

Associated Genes

Nerve Growth Factor
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

29802

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608654.G.1United Arab Emirates10PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type VCarvalho et al. 2011; Saleh et al. 2021 Bedouin family with 5 affected siblings;...
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