NM_014780.5:c.2213_2235del

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  2. NM_014780.5:c.2213_2235del

HGVS Expressions

  • NG_016205.1:g.11882_11904del
  • NM_014780.5:c.2213_2235del
  • NP_055595.2:p.Val738AlafsTer35
  • NC_000006.12:g.43047043_43047065del

Associated Genes

Cullin 7
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

3255581

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.G.5SyriaLikely PathogenicThree 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.