NM_014780.5:c.923T>G

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HGVS Expressions

  • NG_016205.1:g.7668T>G
  • NM_014780.5:c.923T>G
  • NP_055595.2:p.Val308Gly
  • NC_000006.12:g.43051278A>C

Associated Genes

Cullin 7
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

780075101

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.G.6TunisiaUncertain SignificanceThree M Syndrome 1Huber et al. 2005 Unknown number of patients from a family
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Contributors

  • Asha Deepthi: 06.09.2024

Edit History

  • Asha Deepthi: 06.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.