NM_001010892.3:c.72G>A

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HGVS Expressions

  • NG_012934.1:g.5217G>A
  • NM_001010892.3:c.72G>A
  • NP_001010892.1:p.Trp24Ter
  • NC_000006.12:g.116616695G>A

Associated Genes

Radial Spoke Head Component 4A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1775508204

Clinvar

2113289

Epidemiology in the Arab World

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Contributors

  • Asha Deepthi: 01.04.2025

Edit History

  • Asha Deepthi: 01.04.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.