NM_006031.6:c.2374C>T

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HGVS Expressions

  • NG_008961.2:g.44578C>T
  • NM_006031.6:c.2374C>T
  • NP_006022.3:p.Arg792Ter
  • NC_000021.9:g.46363699C>T

Associated Genes

Pericentrin
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

151020551

Clinvar

191168

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.6Saudi Arabia2PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 19.12.2021

Edit History

  • Sayeeda Hana: 03.01.2022
  • Sayeeda Hana: 19.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.