NM_007018.6:c.586C>T

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HGVS Expressions

  • NM_007018.6:c.586C>T
  • NP_008949.4:p.Arg196Ter
  • NC_000009.12:g.121096528C>T

Associated Genes

Centrosomal Protein 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

752360366

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604804.2Egypt2Likely PathogenicMicrocephaly 3, Primary, Autosomal RecessiveShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 11.11.2021

Edit History

  • Rahila Mir: 08.02.2022
  • Sayeeda Hana: 11.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.