NM_014780.5:c.1144C>T

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HGVS Expressions

  • NG_016205.1:g.7889C>T
  • NM_014780.5:c.1144C>T
  • NP_055595.2:p.Arg382Ter
  • NC_000006.12:g.43051057G>A

Associated Genes

Cullin 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1023630527

Clinvar

800989

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.3.1Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018; Alazami et al, 2016
273750.3.2Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018; Alazami et al, 2016 Brother of 273750.3.1
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Contributors

  • Asha Deepthi: 10.11.2021

Edit History

  • Pratibha Nair: 19.09.2022
  • Asha Deepthi: 10.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.