NM_025265.4:c.1333G>A

HGVS Expressions

  • NG_011521.2:g.52223G>T
  • NM_025265.4:c.1333G>A
  • NP_079541.1:p.Val445Ile
  • NC_000003.12:g.12531654G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1216013

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612389.1Lebanon1Likely PathogenicPontocerebellar Hypoplasia, Type 2BJalkh et al. 2019
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