NM_001163435.3:c.831_832insTA

HGVS Expressions

  • NG_034057.3:g.74445_74446insTA;
  • NC_000004.12:g.106247239_106247240insAT
  • NM_001163435.3:c.831_832insTA
  • NP_001277697.2:p.Pro106fs
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Clinvar

225238

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616900.4Syria2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3Bhoj et al. 2016
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