NM_006031.6:c.4655C>A

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  2. NM_006031.6:c.4655C>A

HGVS Expressions

  • NG_008961.2:g.80539C>A
  • NM_006031.6:c.4655C>A
  • NP_006022.3:p.Ser1552Ter
  • NC_000021.9:g.46399660C>A

Associated Genes

Pericentrin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

915028258

Clinvar

1323423

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.11Egypt2PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 19.12.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 08.02.2022
  • Sayeeda Hana: 07.01.2022
  • Sayeeda Hana: 19.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.