NM_014780.5:c.2592T>G

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  2. NM_014780.5:c.2592T>G

HGVS Expressions

  • NG_016205.1:g.12642T>G
  • NM_014780.5:c.2592T>G
  • NP_055595.2:p.Tyr864Ter
  • NC_000006.12:g.43046304A>C

Associated Genes

Cullin 7
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201406974

Clinvar

127244

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.8Saudi Arabia2Likely PathogenicThree M Syndrome 1Alazami et al. 2015; Shaheen 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.