NM_014780.5:c.2988G>A

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  2. NM_014780.5:c.2988G>A

HGVS Expressions

  • NG_016205.1:g.13669G>A
  • NM_014780.5:c.2988G>A
  • NP_055595.2:p.Trp996Ter
  • NC_000006.12:g.43045277C>T

Associated Genes

Cullin 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1581930130

Clinvar

828132

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.5.1Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018
273750.5.2Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018 Relative of 273750.5.1
273750.9Saudi Arabia2Likely PathogenicThree M Syndrome 1Monies et al. 2019
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Contributors

  • Asha Deepthi: 10.11.2021

Edit History

  • Pratibha Nair: 21.11.2023
  • Asha Deepthi: 10.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.