NM_006457.5:c.1162C>T

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  2. NM_006457.5:c.1162C>T

HGVS Expressions

  • NM_006457.5:c.1162C>T
  • NP_006448.5:p.Pro388Ser
  • NC_000004.12:g.94640329C>T

Associated Genes

PDZ and LIM Domain Protein 5
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CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

7690464

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
181500.G.1United Arab Emirates10.004BenignMoselhy et al. 2015 121 patients (71 males, 50 females) diag...
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Contributors

  • Pratibha Nair: 29.06.2022

Edit History

  • Asha Deepthi: 05.12.2022
  • Pratibha Nair: 29.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.