NM_006031.6:c.196G>T

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  2. NM_006031.6:c.196G>T

HGVS Expressions

  • NG_008961.2:g.7397G>T
  • NM_006031.6:c.196G>T
  • NP_006022.3:p.Gly66Ter
  • NC_000021.9:g.46326518G>T

Associated Genes

Pericentrin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587779355

Clinvar

127247

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.13Saudi Arabia2Likely PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIShaheen et al. 2014
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Contributors

  • Pratibha Nair: 31.10.2023

Edit History

  • Pratibha Nair: 31.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.