NM_001083961.2:c.193G>A

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  2. NM_001083961.2:c.193G>A

HGVS Expressions

  • NG_028101.1:g.8915G>A
  • NM_001083961.2:c.193G>A
  • NP_001077430.1:p.Val65Met
  • NC_000019.10:g.36058795G>A

Associated Genes

Wd Repeat-Containing Protein 62
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387907084

Clinvar

31040

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604317.2.1Saudi Arabia2PathogenicMicrocephaly 2, Primary, Autosomal Recessive, with or without Cortical MalformationsShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 10.11.2021

Edit History

  • Sayeeda Hana: 10.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.