NM_018136.5:c.3067T>G

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HGVS Expressions

  • NG_015867.1:g.26634T>C
  • NM_018136.5:c.3067T>G
  • NP_060606.3:p.Leu1023Val
  • NC_000001.11:g.197125061A>C

Associated Genes

Abnormal Spindle-Like, Microcephaly-Associated
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1679839

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.2.1United Arab Emirates2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessiveAl-Gazali and Ali, 2010
608716.2.2United Arab Emirates2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessiveAl-Gazali and Ali, 2010 Sibling of 608716.2.1
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Contributors

  • Pratibha Nair: 05.08.2020

Edit History

  • Pratibha Nair: 27.12.2022
  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 05.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.