NM_006031.6:c.5767C>T

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HGVS Expressions

  • NG_008961.2:g.92719C>T
  • NM_006031.6:c.5767C>T
  • NP_006022.3:p.Arg1923Ter
  • NC_000021.9:g.46411840C>T

Associated Genes

Pericentrin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

119479062

Clinvar

4706

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.8Saudi Arabia2PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2019
210720.9.1Saudi Arabia2PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2019
210720.9.2Saudi Arabia2PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2019 Sibling of 210720.9.1
210720.9.3Saudi Arabia2PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2019 Sibling of 210720.9.1
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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.