NM_006031.5:c.5767C>T

  1. Home
  2. NM_006031.5:c.5767C>T

HGVS Expressions

  • NG_008961.1:g.92719C>T
  • NM_006031.5:c.5767C>T
  • NP_006022.3:p.Arg1923Ter
  • NC_000021.9:g.46411840C>T

Associated Genes

Pericentrin
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

119479062

Clinvar

4706

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.2.1Oman2NALikely PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIRauch et al. 2008 Patient 'P3' in the publication
210720.2.2Oman1NARauch et al. 2008 Father of 210720.2.1
210720.2.3Oman1NARauch et al. 2008 Mother of 210720.2.1
Download Table

Contributors

    Edit History

    • Asha Deepthi: 10.03.2021
    • Asha Deepthi: 03.01.2019
    • Asha Deepthi: 31.12.2018
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.