NM_006031.6:c.2812C>T

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HGVS Expressions

  • NG_008961.2:g.47665C>T
  • NM_006031.6:c.2812C>T
  • NP_006022.3:p.Gln938Ter
  • NC_000021.9:g.46366786C>T

Associated Genes

Pericentrin
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CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.10Saudi Arabia2PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2019
210720.12Saudi Arabia2NALikely PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIMaddirevula et al. 2018
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Contributors

  • Sayeeda Hana: 19.12.2021

Edit History

  • Asha Deepthi: 09.02.2022
  • Rahila Mir: 08.02.2022
  • Sayeeda Hana: 03.01.2022
  • Sayeeda Hana: 19.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.