NM_058179.4:c.296C>T

HGVS Expressions

  • NG_012165.1:g.12697C>T
  • NM_058179.4:c.296C>T
  • NP_478059.1:p.Ala99Val
  • NC_000009.12:g.78304839C>T
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

156364

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616038.1Lebanon2PathogenicNeu-Laxova Syndrome 2 Nair et al. 2018
616038.2Egypt2PathogenicNeu-Laxova Syndrome 2 El-Hattab et al. 2016
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