NM_001267550.2:c.36040A>T

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  2. NM_001267550.2:c.36040A>T

HGVS Expressions

  • NG_011618.3:g.170423A>T
  • NM_001267550.2:c.36040A>T
  • NP_001254479.2:p.Lys12014*

Associated Genes

Titin
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Genomic Location

chr2:178665380

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608807.1Lebanon1Likely PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 10Nair et al. 2018
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Contributors

  • Pratibha Nair: 16.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 16.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.