NM_001378183.1:c.273_279del

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HGVS Expressions

  • NG_034005.1:g.174215_174221del
  • NM_001378183.1:c.273_279del
  • NP_001365112.1:p.Pro92ThrfsTer18
  • NC_000018.10:g.10979544_10979550del

Associated Genes

Piezo-Type Mechanosensitive Ion Channel Component 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

2145486698

Clinvar

1339520

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617146.1Saudi Arabia2Likely PathogenicArthrogryposis, Distal, with Impaired Proprioception and TouchMonies et al. 2017
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Contributors

  • Asha Deepthi: 22.01.2025

Edit History

  • Asha Deepthi: 22.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.