NM_018136.5:c.4074G>A

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  2. NM_018136.5:c.4074G>A

HGVS Expressions

  • NG_015867.1:g.46518G>A
  • NM_018136.5:c.4074G>A
  • NP_060606.3:p.Trp1358Ter
  • NC_000001.11:g.197105177C>T

Associated Genes

Abnormal Spindle-Like, Microcephaly-Associated
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

199422162

Clinvar

21584

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.4Morocco1Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009
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Contributors

  • Pratibha Nair: 11.07.2021

Edit History

  • Pratibha Nair: 11.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.